Manifestations of systemic diseases

1) Bony abnormalities seen in patients with the condition in the figure include all of the following except:

A. spina bifida

B. pseudoarthrosis

C. lordosis

D. monoarticular arthropathy Correct Choice

E. Kyphosis

This picture demonstrates a café au lait macule and kyphoscoliosis in a patient with Neurofibromatosis type 1 (NF1). The bony abnormalities seen in these patients include: kyphoscoliosis, pseudoarthrosis, lordosis, and spina bifida

2) The organism that causes this infection shown in the figure is:

A. C. albicans Correct Choice

B. P. aeruginoas

C. T. tonsuran

D. T. verrucosum

E. C. immitis

The organism that causes erosio interdigitalis blastomycetica is candida albicans.

3) Erythema gyratum repens is known to be associated with all of the following malignancies except:

A. Bladder carcinoma

B. Cervical carcinoma

C. Breast carcinoma

D. Lung carcinoma

E. Gastric carcinomaCorrect Choice

Erythema gyratum repens presents more commonly in men than in women, and appears clinically as concentric erythematous rings with trailing scale on the trunk and proximal extremities. The skin is described as having a "wood grain" appearance. Skin findings often precede the diagnosis of an

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associated malignancy. Lung carcinoma is the most commonly associated malignancy, but it has also been reported in association with breast, cervical, bowel, and bladder cancer.

4) Regarding eruptive xanthomas, which of the following is true?

A. They occur in the setting of familial hyperlipidemia types I, IV, and VCorrect Choice

B. They occur in the setting of familial hyperlipidemia types II and III

C. They are most commonly found on the eyelids

D. They are not related to alcohol consumption

E. Triglyceride levels are usually below 500mg/dl

Eruptive xanthomas generally occur in patients with triglyceride levels of 2000mg/dl or greater. Associations include poorly-controlled diabetes mellitus, retinoids, estrogens, excessive alcohol consumption (leading to pancreatitis) and familial hyperlipidemias types I, IV and V. Clinically, they appear as crops of firm, non-tender yellowish papules with an erythematous border. Most commonly, they occur on the extensor surfaces, but they can be diffuse. A reduction in triglycerides and/or tight glucose control usually results in a reduction in the number of lesions

5) Paraneoplastic pemphigus is associated with all of the following underlying malignancies EXCEPT:

A. Non-Hodgkins lymphoma

B. Castleman's tumor

C. Chronic lymphocytic leukemia

D. Thymoma

E. Lung carcinomaCorrect Choice

Paraneoplastic pemphigus has been associated with Non-Hodgkins lymphoma, chronic lymphocytic leukemia, thymoma, Castleman's tumor, and sarcoma. It has not been associated with lung carcinoma. Treatment includes management of the underlying malignancy, as well as prednisone or other immunosuppressive agents

6) What is the most common malignancy associated with this condition at this location?

A. Gastric cancerCorrect Choice

B. Melanoma

C. Breast cancer

D. Thyroid cancer

E. Pancreatic cancer

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Malignant acanthosis nigricans usually presents with sudden onset and is rapidly progressive. It may be associated with diffuse keratodermas of the palms and soles or eruptive seborrheic keratoses

7) The most common location of the lesions in nephrogenic fibrosing dermopathy is:

A. Chest

B. Palms and soles

C. Face

D. Back

E. Lower extremities Correct Choice

The most common location for lesions of nephrogenic fibrosis dermopathy is the lower extremities

8) A 55 year old patient presents with new onset brown macules on arms, legs, face and palms. She gives a 3 month history of diarrhea, abdominal cramps, weight loss and protein-losing enteropathy. The most likely diagnosis is:

A. Ulcerative colitis

B. Cowden disease

C. Cronkhite-Canada syndromeCorrect Choice

D. Plummer-Vinson syndrome

E. Peutz-Jeghers syndrome

Cronkhite-Canada is an aquired disease characterized by the development of polyps throughout the GI tract. Patients can present with hyperpigmented macules as well as the sequella of GI malabsorption. The malignant transformation of polyps can occur

9) Which of the following is not a feature of Cronkhite-Canada syndrome?

A. Hyperpigmented macules

B. Diarrhea

C. Alopecia

D. Lung carcinomaCorrect Choice

E. Dystrophic nails

Cronkhite-Canada syndrome is a rare, non-familial disease characterized by patchy alopecia, nail changes or loss, lentigines, inflammatory polyps, abdominal pain, and a protein losing enteropathy

10) A patient with congenital hypertrophy of retinal epithelium is most likely to have:

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A. Adenomatous polyposisCorrect Choice

B. Tram-track calcifications on head radiograph

C. Peg-shaped teeth

D. Pheochromocytoma

E. An autosomal dominant mutation in the MSH2 gene

Congenital hyperpigmentation of the retinal pigment (CHRPE) is an early feature of Gardner syndrome (GS). It is found in approximately 60% of patients with GS. GS is an autosomal dominant disorder characterized by precancerous intestinal polyposis and subsequent adenocarcinoma of the gastrointestinal tract. Cutaneous manifestations include epidermoid cysts, osteomas, desmoids and fibrous tumors. A mutation in the adenomatous polyposis coli (APC) gene, a tumor suppressor gene, is responsible for the disease. Most patients develop colon carcinoma by the 2nd or 3rd decade. Therefore, prophylactic colectomy is warranted. Mutations in the MSH2 gene are found in Muir-Torre syndrome. Pheochromocytomas are found in multiple endocrine neoplasia (MEN) syndromes IIa and IIb. Tram track calcifications are found in Sturge-Weber syndrome. Peg-shaped teeth are found in multiple syndromes including ectodermal dysplasia

11) Which of the following may be associated with Graves’ disease?

A. Geographic tongue

B. Madarosis

C. Dermatitis herpetiformisCorrect Choice

D. Hypohidrosis

E. Thick, pale lips

Graves’ disease is a thyrotoxic condition that results from the production of thyroid-stimulating immunoglobulins (TSI) by stimulated B lymphocytes. The TSI bind to the thyroid-stimulating hormone (TSH) receptor and mimic TSH thereby stimulating thyroid growth and thyroid hormone overproduction. Signs and symptoms of Graves’ disease include goiter, tachycardia, exophthalmos, tremor, sweating, palpitations, smooth moist skin, diarrhea, sleeplessness, irritability, and weight loss. Autoimmune cutaneous disease may also be associated with Graves’ disease including vitiligo, dermatitis herpetiformis, herpes gestationis, and pemphigus vulgaris. Cutaneous manifestations of hypothyroidism include xerosis, hyperhidrosis, yellowish hue, myxedema, and purpura. The hair may be dry, brittle and coarse; alopecia may be diffuse and/or involve the lateral eyebrow (madarosis).

12) Which of the following cutaneous findings are characteristic for Vohwinkles Syndrome?

A. Transient erythroderma at birth, palmoplantar keratoderma, follicular hyperkeratosis, scarring alopecia, dystrophic nails

B. Oral papillomatosis, palmoplantar keratoses, acral keratoses, lipomas, hemangiomas, scrotal tongue

C. Honeycombed diffuse palmoplantar keratoderma, pseudoainhum with autoamputation, star-shaped keratosis over knuckles, nail dystrophy, and alopeciaCorrect Choice

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D. Rapidly progressive alopecia of all hair-bearing areas, onycholysis, onychoschizia, onychomadesis, hyperpigmented macules on extremities

E. Dense depigmented lusterless hair, pili torti, doughy skin, diffuse cutaneous hypopigmentation

Vohwinkles Syndrome is an autosomal dominant disorder caused by a mutation of the GJB2 gene which encodes Connexin 26. Clinical features include deafness, as well as the cutaneous findings described in choice A

13) In patients with mixed cryoglobulinema associated with hepatitis C, the most likely laboratory abnormality is:

A. Decreased cryoglobulins

B. Elevated rheumatoid factor Correct Choice

C. + p-ANCA

D. + ANA

E. Elevated hematocrit

In patients with mixed cryoglobulinemia, the most likely laboratory abnormality among the options listed is an elevated rheumatoid factor

14) cryoglobulinemia are true EXCEPT:

A. Type I is composed of monoclonal IgG and polyclonal IgMCorrect Choice

B. Type II is composed of polyclonal IgG and monoclonal IgM

C. 80% of cases of mixed cryoglobulinemia are associated with Hepatitis C infection

D. Type III is composed of polyclonal IgG and polyclonal IgM

E. None of these answers are correct (all statements are true)

Type I is composed of monoclonal immunoglobulins

15) Which of the following statements regarding porphyrias is TRUE?

A. Delta aminolevulenic acid is the only oxidized porphyrinCorrect Choice

B. Acute intermittent porphyria is the most common form of porphyria

C. Plasma fluoresces at 410 nm in patients with variegate porphyria

D. Griseofulvin is safe for those with variegate porphyria

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E. Elevated uroporphyrins are found in the red blood cells of hepatoerythropoietic porphyria

Acute intermittent porphyria (AIP) is the second most common porphyria and is caused by a deficiency in porphobilinogen (PBG) deaminase, which is located in the cytosol. Patients suffer from colicky pain, paralysis and psychiatric disorders. There are no specific skin manifestations. PBG and aminolevulenic acid (ALA) are elevated in the urine. Attacks are precipitated by medications such as barbiturates, estrogen, griseofulvin, and sulfonamides as well as starvation, fever and infection. Treatment includes glucose loading and hematin infusion.

Congenital erythropoietic porphyria (CEP) or Günter’s disease is caused by a defect in uroporphyrinogen III synthase, which is found in the cytosol. Patients are extremely photosensitive and erythema, blistering and scarring result. Patients present with red urine early in life along with hypertrichosis and red-stained teeth that fluoresce. Uroporphyrins (URO) are much high than coproporphyrins (COPRO) in the urine. URO is found in the red blood cells (rbcs) and COPRO is found in the stool. The rbcs display stable fluorescence.

Porphyria cutanea tarda (PCT) is the most common porphyria and is caused by a deficiency (usually sporadic) in uroporphyrinogen decarboxylase, which is found in the cytosol. Patients present with photosensitivity and blistering of sun-exposed areas, especially the dorsal hands. Hypertrichosis and sclerodermoid changes may occur as well. Liver disease (hepatitis C or alcoholic cirrhosis) is often present and hemochromatosis may be associated. Urine may fluoresce pink or coral-red with Wood’s lamp. URO>COPRO in the urine and low levels of COPRO are found in the stool. Treatments include phlebotomy, antimalarials, and therapy for liver disease if appropriate.

Hereditary coproporphyria (HCP) is caused by a deficiency in coproporphyrinogen oxidase, which is found in the mitochondria. One-third of patients are photosensitive, and patients suffer gastrointestinal and neurological symptoms similar to AIP. Urine COPRO is elevated only with attacks, and COPRO is present in the stool.

Variegate porphyria is the result of decreased activity of protoporphyrinogen oxidase, which is present in the mitochondria. It combines the skin lesions of PCT with the systemic manifestations of AIP. Urine COPRO:URO is 1:1 or COPRO> URO to distinguish it from PCT, and PROTO is found in the stool. The plasma fluoresces at 626nm. Precipitators and treatments are similar to AIP.

Erythropoietic protoporphyria (EPP) is caused by ferrochetalase deficiency, which is present in the mitochondria. Patients experience immediate burning of the skin with sun exposure. Protoporphyrin IX, the only oxidized porphyrin in the heme pathway and absorbs in the Soret band (400-410nm). Patients have erythematous plaques in a photo-distribution. Urine porphyrins are normal. PROTO is found in the rbcs and the stool. Excessive porphyrins deposited in the liver lead to gallstones and cirrhosis. Beta carotene may helpful.

Hepatoerythropoietic porphyria (HEP) is essentially a homozygous form of PCT, with deficiency in uroporphyrinogen decarboxylase. It is clinically similar to CEP with red urine and hypertrichosis, vesicles and scarring of sun-exposed skin. URO is present in the urine and COPRO in the stool. PROTO is present in rbcs which distinguishes it from CEP, which was URO in rbcs

16) A young African American patient presents with anemia and spontaneously appearing leg ulcers over both lateral and medial malleoli. The most likely diagnosis is:

A. Trauma

B. Atherosclerotic disease

C. Sickle cell anemiaCorrect Choice

D. Factitial dermatitis

E. Lupus erythematosus

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Sickle cell anemia should be considered most likely in any young African American with spontaneous leg ulcers. The ulcers are more common in people with severe anemia.

17) The expected histology of a biopsy take from the lesion shown in the image would

A. Schumann bodies

B. Collagen degeneration Correct Choice

C. Granulomatous infiltrate localized to the papillary dermis

D. Increased mucin

E. Elastic fiber degeneration

The histologic findings of necrobiosis lipodica diabeticorum are: dermal granulomatous inflammation in a horizontal pattern, collagen degeneration, and normal or atrophic epidermis

18) Which of the following is NOT true regarding Cushing's Syndrome?

A. Corticotropin is suppressed with the administration of dexamethasoneCorrect Choice

B. It may be associated with an underlying oat cell lung carcinoma

C. Urine cortisol levels are elevated

D. It may be associated with hypertension and hypokalemia

E. May present with hyperpigmentation and facial plethora

In Cushing's Syndrome, corticotropin is NOT suppressed with the administration of dexamethasone. The other statements are true

19) Hepatitis C infection is associated with:

A. Gianotti-Crosti syndrome

B. Kapsi’s sarcoma

C. Mixed cryoglobulinemiaCorrect Choice

D. Oral hairy leukoplakia

E. Pityriasis rosea

Cutaneous manifestation associated with hepatitis C include necrolytic acral erythema, porphyria cutanea tarda, lichen planus, polyarteritis nodosa and mixed cryoglobulinemia. Mixed cryoglobulinemias is a systemic vasculitis with variable manifestations including palpable purpura, arthralgias and weakness

20) Which of the following is true regarding piebaldism?

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A. It is caused by a mutation in the GJB2 gene

B. It is caused by a mutation in the proto-oncogene c-KITCorrect Choice

C. It is caused by a defect in a protein subunit of a kinase that activates NFkappaB

D. It is caused by defective metabolism of phytanic acid

E. It is caused by a deficiency of fatty aldehyde dehydrogenase

Piebaldism is caused by an autosomal dominant mutation of the proto-oncogene c-KIT which encodes tyrosine a tyrosine kinase receptor on melanocytes, preventing activation by steel factor

21) An end stage AIDS patient with tuberulosis presents with diffuse hyperpigmentation of both sun-exposed and unexposed areas. The palmer creases are markedly hyperpigmented and the patient is very ill. The most likely diagnosis is:

A. Kaposi's sarcoma

B. Argyria

C. Lymphoma

D. Addison diseaseCorrect Choice

E. Tinea versicolor Addison disease is caused by destruction of the adrenal glands by any cause. Tuberculosis used to be the primary cause, now the most common cause is auto-immune destruction. Other causes of adrenal gland destruction include; coccidiomycosis, cryptococcosis, histoplasmosis, sarcoidosis, metastatic tumor and amyloidosis.

22) A complication seen in women of childbearing age with the condition in the figure is:

A. Pulmonary emboli

B. Lisch nodules

C. Gastrointestinal bleeding

D. Pulmonary lymphangioleiomyoma Correct Choice

E. Atrial septal defect

This picture demonstrates a shagreen patch in a patient with Tuberous sclerosis. A complication occurring in female patients of child-bearing age is pulmonary lymphangioleiomyoma

23) The histopathologic findings shown in the image is seen in patients with:

A. Cowden's Syndrome Correct Choice

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B. Proteus syndrome

C. Bannayan-Riley-Ruvalcaba

D. Rombo syndrome

E. Birt-Hogg-Dube Syndrome

This slide shows lobular formations extending from the epidermis with palisading keratinocytes at the periphery of the lobules. These features are consistent with trichelemmoma, a characteristic skin finding of Cowden's disease

24) A representative papule on the dorsal distal finger with a coral bead appearance was biopsied. The pathology of the lesion demonstrated oncocytic histiocytes with a ground glass appearance, the diagnosis is:

A. Rheumatoid nodules

B. Granuloma annulare

C. Multicentric reticulohistiocytosis Correct Choice

D. Tendinous xanthomas

E. Erythema elevatum diutinum

This picture and the histologic description are consistent with Multicentric reticulohistiocytosis. Multicentric reticulohistiocytosis is associated with a symmetric polyarthritis as well as malignancy. Reported malignancies include melanoma, sarcoma, leukemia, lymphoma, and carcinomas of the breast, colon, bronchus, cervix, stomach, and ovaries

25) Which of the following is NOT associated with hepatitis C disease?

A. Mixed cryoglobulinemia

B. Single-stranded DNA viridaeCorrect Choice

C. Leukocytoclastic vasculitis

D. Uroporphyrinogen decarboxylase deficiency

E. Single-stranded RNA viridae

Hepatitis C virus (HCV) is a single-stranded RNA virus that is a member of the flaviviridae family. Approximately 20-30% of patients develop symptoms with acute infection and 70% will progress to chronic disease. Porphyria cutanea tarda or PCT (uroporphyrinogen decarboxylase deficiency) is associated with HCV in a substantial percentage of patients; in one study, antibodies to HCV were found in 82% of PCT patients. Up to 80% of mixed cryoglobulinemia (MC) cases are associated with HCV. The incidence of lichen planus in HCV patients varies from region to region (0.1-35%). The histopathology of MC lesions is leukocytoclastic vasculitis. Another relatively common association is polyarteritis nodosa (PAN) which is also related to hepatitis B infection. Finally, generalized pruritis is a common complaint of HCV patients

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26) All of the following are true regarding incontinentia pigmenti EXCEPT:

A. It is an X-linked recessive disorderCorrect Choice

B. Inflammation and blistering may be followed by hyperkeratotic, verrucous lesions

C. It is caused by a mutation in the NEMO gene

D. It is associated with cerebellar ataxia

E. It is associated with coloboma and retinal detachment

Incontinentia pigmenti is an X-linked dominant disorder caused by a mutation in the NEMO gene. Females only present at birth with linear lesions of inflammation and blistering (stage 1), followed by hyperkeratotic verrucous areas (stage 2), hyperpigmentation (stage 3), and then atrophy (stage 4). Systemic findings include psychomotor retardation, microcephaly, seizures, cerebellar ataxia, coloboma, and retinal detachment

27) Which of the following is a paraneoplastic disease most often associated with lung carcinoma?

A. Acanthosis nigricans

B. Dermatomyositis

C. Paraneoplastic pemphigus

D. Erythroderma

E. Hypertrichosis lanuginosa acquisitaCorrect Choice

Hypertrichosis lanuginosa acquisita is the abrupt onset of downy, soft, non-pigmented hair of the face, trunk, and extremities. It may have an associated glossitis. It is associated with underlying lung carcinoma and may resolve with treatment of the underlying malignancy

28) Patients with this syndrome, as well as their family members, should undergo periodic surveillance for renal cell carcinoma:

A. Pseudoxanthoma Elasticum

B. Fabry's Disease

C. Birt-Hogg-Dube SyndromeCorrect Choice

D. Osler-Weber-Rendu

E. Nail-Patella Syndrome

Strong evidence suggests that BHDS and bilateral renal tumors co-segregate in an autosomal dominant fashion. Histologically, these renal tumors are oncocytomas, chromophobe adenomas, and papillary renal cell carcinoma. Periodic surveillance of patients and their relatives for renal cell carcinoma is recommended

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29) You are called to evaluate a patient on the oncology service with the lesions pictured. Which of the following statements is NOT true regarding this disease process? (Photo courtesy of Derm101.com)

A. This patient will most likely die from complications of the underlying malignancy.

B. Skin biopsy would reveal suprabasal acantholysis and dyskeratosis.

C. This patient most likely has an underlying gastric carcinoma.Correct Choice

D. Direct immunofluorescence of perilesional skin would demonstrate intercellular IgG and granular C3 at the dermoepidermal junction.

E. Skin biopsy would reveal vacuolar interface dermatitis with a lichenoid infiltrate.

Paraneoplastic pemphigus presents with painful oral erosions/ stomatitis as well as a polymorphous skin eruption. Most patients die from complications of the underlying malignancy. The condition is associated with Non-Hodgkins lymphoma, chronic lymphocytic leukemia, thymoma, Castleman's tumor, and sarcoma. Statements A, C, D, and E are correct

30) All of the following are true regarding the condition pictured EXCEPT:

A. It is associated with HLA-DQ2, HLA-DR3, and HLA-B8

B. Only 20% of patients have a gluten-sensitive enteropathyCorrect Choice

C. Perilesional direct immunofluroescence shows granular IgA in the dermal papillae and at the dermoepidermal junction

D. Cutaneous findings are due to autoantibodies to epidermal transglutaminase

E. It is associated with Hashimoto's thyroiditis

All of the statements regarding dermatitis herpetiforms, or "Duhring's Disease," are true except for statement B. Virtually all DH patients have gluten-sensitive enteropathy, although only 20% of them have symptoms (such as diarrhea, steatorrhea, weight loss, bloating, and malabsorption).

31) Which of the following is true regarding cutaneous associations with hepatitis C virus (HCV) infection?

A. Pruritus in the setting of chronic HCV infection is generally correlated with elevated bile salt levels in the setting of liver failure

B. Cutaneous reactions to HCV treatment are less common with interferon/ribavirin combination treatment than with treatment with interferon alone

C. HCV-related porphyria cutanea tarda may be caused by decompartmentalization of iron stores and resultant oxidation of uroporphyrinogen decarboxylaseCorrect Choice

D. Polyarteritis nodosa is associated with HCV infection but not hepatitis B virus infection

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E. Erosive mucosal lichen planus has a weaker association with HCV than does cutaneous lichen planus

Erosive mucosal variant of lichen planus has the strongest association with HCV. The pathogenesis of pruritus in the setting of chronic HCV infection may be related to elevated bile salt levels in the setting of liver failure, but there is not always a direct correlation between serum bile salt level and degree of pruritus. Polyarteritis nodosa is associated with both HCV infection and hepatitis B virus infection. Statement D is correct. Cutaneous reactions to HCV treatment are more common with interferon/ribavirin combination treatment than with treatment with interferon alone.

32) Which of the following is TRUE about diabetic-related skin disease?

A. Necrobiosis lipoidica affects approximately 20% of diabetics

B. Bullae are common on the thighs

C. Diabetic dermopathy affects the upper back

D. Yellow skin affects the majority of diabetic patients

E. Direct immunofluorenscence is usually negative in bullous diabeticorumCorrect Choice

Approximately 30% of diabetic patients have cutaneous manifestations of their disease. Diabetic dermopathy, or “shin spots” is the most common cutaneous association with diabetes. Patients are generally long-standing diabetics, and are associated with symmetrical brownish, atrophic plaques on the shins. Acanthosis nigricans is more common in black and Hispanic diabetics, and may be a component of the HAIRAN (hyperandrogen, insulin resistance, acanthosis nigricans) syndrome. Hyperpigmented velvety plaques are most often found in the flexures. Waxy, thick skin and limited joint mobility are both related to poor glucose control. Scleredema diabeticorum, which most often causes thickened plaques of the upper back and neck most often affects type II diabetics. Necrobiosis lipoidica diabeticorum (NLD) is present in only 0.3 to 3% of diabetics, but perhaps 20% of patients with NLD have diabetes or glucose intolerance. Sharply-demarcated yellow-brown, telangiectatic plaques are found on the tibial surfaces. Ulceration may occur. Yellow skin may affect approximately 10% of diabetics and presents diffusely. Serum carotene levels may be elevated. Perforating disorders may be related, especially in the setting of renal disease. In the setting of hypertriglyceridemia, eruptive xanthomata may be present. The association between diabetes and granuloma annulare (GA) is controversial. If truly an association, the generalized and perforating forms of GA are most commonly associated. Infectious associations include candidiasis, which may present an angular cheilitis, chronic paronychia, interdigital or intertriginous disease. Cutaneous bacterial infections, including group A and B streptococci, pseudomonas aerugenosa and corynebacterium are more common. Dermatophyte infections are not more common, although tinea pedis may increase the risk for cellulitis in diabetic patients. Finally, rhinocerebral mucormycosis is a potential disasterous complication of uncontrolled hyperglycemia with ketoacidosis. Mortality rates can approach 35%.

33) The most likely underlying malignancy associated with the lesions shown is:

A. Breast Cancer

B. Waldenstrom's macroglobulinemia

C. Acute myelogenous leukemia Correct Choice

D. Castleman's tumor

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E. Multiple myeloma

These are typical lesions of Acute Febrile Neutrophilic dermatosis (Sweet's Syndrome), a paraneoplastic disease most strongly associated with Acute myelogenous leukemia

34) The most common autoimmune disease associated with hepatitis C is:

A. Myasthenia gravis

B. Autoimmune thyroiditis Correct Choice

C. Aplastic anemia

D. Rheumatoid arthritis

E. Lymphocytic sialadenitis

The most common autoimmune disease seen in association with Hepatitis C is autoimmune thyroiditis.

35) This patient with the above findings also has recurrent bouts of rectal bleeding and cramping. The most likely underlying disease is:

A. Henoch-schonlein purpura

B. Gardner’s syndrome

C. Polyarteritis nodosum

D. Ulcerative colitis Correct Choice

E. Dermatitis herpetiformis

These cobblestone mucosal lesions are pyostomatitis vegetans. They are seen in those with ulcerative colitis

36) The shoulder pad sign has been described in which disease?

A. cushings disease

B. nephrogenic fibosing dermopathy

C. dermatomyositis

D. systemic lupus erythematosis

E. systemic amyloidosisCorrect Choice

The shoulder pad sign has been described in the setting of late systemic amyloidosis and is due to the direct deposition of amyloid in the deltoid muscles

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37) Hypothyroidism may result in all of the following cutaneous findings except:

A. Purpura

B. Yellowish hue

C. All of these answers are correctCorrect Choice

D. Increase in the percentage of telogen hairs

E. Madarosis

All of the above are non-specific cutaneous manifestations of hypothyroidism: an increase in percentage of telogen hairs, yellowish hue caused by carotenemia, purpura secondary to impaired wound healing, and loss of the lateral third of the eyeborw (madarosis)

38) The most likely underlying diagnosis of the patient in the figure is:

A. SLE

B. Endocarditis

C. Mycosis Fungoides

D. Multicentric Reticulohistiocytosis

E. Dermatomyositis Correct Choice

This patient has periungal telangiectasias. It is commonly seen in those with dermatomyositis

39) Which of the following diseases is caused by an enzymatic defect that occurs in the mitochondria?

A. Erythropoeitic ProtoporphyriaCorrect Choice

B. Hepatoerythropoetic Porphyria

C. Congenital Erythropoeitic Porphyria

D. Acute Intermittent Porphyria

E. Porphyria Cutanea Tarda

Defects in many of the enzymes involved in heme synthesis are responsible for porphyrias. The first and last three steps of the heme synthesis pathway occur in the mitochondria

40) Which of the following is (are) characteristic of basal cell nevus syndrome?

A. Tram-track calcifications

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B. Telangiectasias

C. Autosomal recessive inheritance

D. NEMO gene mutation

E. ColobomasCorrect Choice

Basal cell nevus syndrome (Gorlin syndrome) is caused by an autosomal dominant mutation in PTCH gene that encodes PTC protein involved in sonic hedge hog pathway. This mutation leads to loss of inhibition of smoothened (SMO) leading to an increased expression of other genes. Cutaneous findings include nevoid basal cell carcinomas, milial cysts, epidermoid cysts and palmar-plantar pits. Neurological findings include calcifications of the falx cerebri, agenesis of the corpus callosum, mental retardation, medulloblastoma and spina bifida. Ocular findings include blindness, cataracts, colobomas and strabismus. Other findings include odontogenic cysts of the jaw, frontal bossing, bifid ribs, and pectus deformity. NEMO gene mutations are found in incontinentia pigmenti. Tram-track calfications are seen Sturge-Weber syndrome. Telangiectasias are seen in ataxia-telangiectasia among others

41) All of the following statements are true regarding this condition EXCEPT:

A. 0.3-3% of diabetics have this skin condition

B. There is no impact of tight glucose control on the likelihood of developing this condition

C. This condition is associated with increased dermal mucinCorrect Choice

D. Diabetes or glucose intolerance is found in 20% of these patients

E. This condition may be associated with cutaneous anesthesia, hypohidrosis, and partial alopecia

Necrobiosis Lipoidica Diabeticorum (NLD) is found in 0.3-3% of diabetics. Approximately 20% of NLD patients have diabetes or glucose intolerance. It presents with single or multiple red-brown papules which progress to sharply demarcated yellow-brown atrophic, telangiectatic plaques with violaceous, irregular borders; common sites include the shins. Cutaneous anesthesia, hypohidrosis, and partial alopecia can be found. Pathology shows palisading granulomas containing degenerating collagen (necrobiosis); with NO increase in dermal mucin. There is no impact of tight glucose control on the likelihood of developing NLD

42) A patient with esophageal carcinoma has scale plaques on the ears, hands and feet. He may have:

A. Dermatomyositis

B. Sweet’s syndrome

C. Bazex’s syndromeCorrect Choice

D. Paraneoplastic pemphigus

E. Multicentric reticulohistiocytosis

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Bazex’s syndrome (acrokeratosis paraneoplatica of Bazex) is characterized by psoriasiform changes of the hands, ears, feet, and nose. Involvement of the nails may be indistinguishable from psoriasis. It occurs in association with malignancies of the upper aerodigestive tract

43) Which of the following is an autosomal recessive disorder characterized by pili torti and deafness?

A. Waardenburg Syndrome

B. Bjornstad's SyndromeCorrect Choice

C. Refsum Disease

D. Sjorgen-Larsson Syndrome

E. Cockayne Syndrome

Waardenburg Syndrome is an autosomal dominant disorder. Sjorgen-Larsson Syndrome is an autosomal recessive disorder characterized by a triad of ichthyosis, di- or tetraplegia, mental retardation. Refsum Disease is an autosomal recessive disorder whose features include deafness, mild ichthyosis in adulthood, and accentuated palmar creases. Bjornstad's Syndrome is an autosomal recessive disorder characterized by pili torti and deafness. Cockayne Syndrome is an autosomal recessive disorder whose features include photosensitivity, bird-headed facies, and "Mickey-Mouse" ears, as well as deafness

44) Triple palms are a cutaneous manifestation associated with which of the following malignancies?

A. Renal carcinoma

B. Colon carcinoma

C. Pancreatic carcinoma

D. Prostate carcinoma

E. Lung carcinomaCorrect Choice

Tripe palms are rugose thickening of the palms which are nearly always associated with internal malignancy. When tripe palms are present without other cutaneous findings, the most likely internal malignancy is lung cancer. Tripe palms in association with acanthosis nigricans is most likely to be associated with gastric cancer

45) Mutations in the STK11 gene encoding a serine threonine kinase are seen in:

A. Muir-Torre Syndrome

B. Bannayan-Riley-Ruvalcaba Syndrome

C. Cronkhite-Canada Syndrome

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D. Peutz-Jeghers SyndromeCorrect Choice

E. Birt-Hogg-Dubbe Syndrome

Peutz-Jeghers Syndrome is an autosomal dominant syndrome. 50% of patients have mutations in the STK11 gene which encodes a serine threonine kinase. It presents with periorificial and mucosal lentigines beginning in infancy, as well as hamartomatous intestinal polyps with intussusception and bleeding; gallbladder, pancreatic, breast, ovarian, and testicular cancer

46) When metastases to the skin occur from a thyroid malignancy, they are usually due to:

A. Medullary carcinoma

B. Papillary adenocarcinomaCorrect Choice

C. Cutaneous metastases have not been reported in association with thyroid malignancies

D. Anaplastic carcinoma

E. Follicular carcinoma

Metastases to the skin from a thyroid malignancy are rare, but most reported cases occur with papillary adenocarcinoma

47) An uncommon complication of treatment with potassium iodide is:

A. Acute generalized exanthematous pustulosis

B. Exacerbation of lichen planus

C. Erythema nodosum

D. Wolff-Chiakoff effect Correct Choice

E. Hyperhidrosis

An uncommon complication of treatment with potassium iodide is the Wolff-Chiakoff effect

48) A patient presents with diffuse waxy keratoderma of the palms and soles as well as oral hairy leukoplakia. Which of the following statements regarding this condition is NOT true?

A. Features may include squamous cell carcinomas arising from keratodermic skin

B. None of these answers are correct (all are true)

C. Family members should be advised to undergo cancer screening

D. This condition is autosomal recessiveCorrect Choice

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E. This condition may be associated with esophageal carcinoma

Howell-Evans syndrome is an autosomal dominant disorder that presents with diffuse waxy keratoderm of the palms and soles, as well as oral hairy leukoplakia and squamous cell carcinoma arising from keratodermic skin. It is associated with esophageal carcinoma; cancer screening in family members is advised

49) The presence of antibodies to c-ANCA is characteristically seen in patients with which disease?

A. Nodular vasculitis

B. Polyarteritis nodosa

C. Churg-Strauss disease

D. Ulverative colitis

E. Wegener’s granulornatosis Correct Choice

Wegener’s granulomatosis is a necrotizing granulomatous disorder that most commonly affects the upper and lower respiratory tracts, kidneys, and eye. Cytoplasmic pattern antineutrophil cytoplasmic autoantibody (anti -proteinase-3) is often positive in this disease. Churg-Strauss is associated with a positive p-ANCA

50) Patients with the condition shown who also have JXG are at increased risk for developing:

A. Juvenile chronic myelogenous leukemia Correct Choice

B. Non-Hodgkin's Lymphoma

C. Medullary carcinoma of the thyroid gland

D. Breast cancer

E. Esophageal cancer

The picture demonstrates a plexiform neuroma in a patient with NF I. Patient with NF 1 who have multiple juvenile xanthogranulomas are at 20 times greater risk for developing juvenile chronic myelogenous leukemia

51) Hyperkeratotic follicular nasal papules have been described as a paraneoplastic sign in the setting of which neoplasm?

A. Castleman's tumor

B. Renal cell carcinoma

C. AML

D. Adenocarcinoma of the lung

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E. Multiple myelomaCorrect Choice

Hyperkeratotic follicular nasal papules have been described as a paraneoplastic phenomenon in the setting of multiple myeloma. AML is associated with Sweet's syndrome and Castleman's tumor is associated with paraneoplastic pemphigus

52) A patient with gluten-sensitive enteropathy presents with vesicles on the extensor surfaces of the extremities. What findings are most likely on a perilesional biopsy?

A. Granular IgA at the dermoepidermal junction on direct immunofluorescenceCorrect Choice

B. Linear C3 and IgG at the dermoepidermal junction on direct immunofluorescence

C. Leukocytoclastic vasculitis

D. Linear IgA surrounding vessels on direct immunofluorescence

E. Pautrier’s micro-abscesses in the epidermis on H & E

This patient has dermatitis herpetiformis (DH). DH is characterized by itchy papulovesicles on extensor surfaces of the extremities. Neutrophilic infiltrates at the dermal papillae with vesicle formation are found on histopathologic examination. On immunofluorescence, granular IgA (directed against transglutaminase) deposits are found in perilesional skin. Over 90% of patients have gluten-sensitive enteropathy of varying severity. Dapsone is almost universally therapeutic for the skin disease, but not the enteropathy. A gluten free diet, although difficult to maintain, treats the enteropathy. The majority of DH patients have the HLA class II DQ2 genotype. On indirect immunofluorescence, one may find antigliadin, antiendomyseal or antireticulin antibodies. Autoimmune thyroid disease (especially Hashimoto’s thyroiditis), enteropathy-associated T-cell non-Hodgkin’s lymphoma and insulin-dependent diabetes are the most common autoimmune associations. Pautrier’s micro-abscesses are found in mycosis fungoides. Leukocytoclastic vasculitis is not a feature of DH

53) Patients with Werner’s syndrome typically experience which of the following types of cardiac disease?

A. Premature atherosclerosisCorrect Choice

B. Mitral valve prolapse

C. Hypertrophic cardiomyopathy

D. Aortic aneurysms

E. Cardiomegaly

Werner’s syndrome or Progeria is caused by autosomal recessive mutations in WRN (Recql2) gene, which encodes DNA helicase. This defect leads to defects in DNA repair and replication. Patients prematurely age and essentially experience many diseases of aging early in childhood and teen years. They exhibit tight atrophic skin, relatively large heads for body size, leg ulcers and cannities. Patients experience early, accelerated atherosclerosis leading to death by myocardial infarction. In addition, type II diabetes, cataracts, osteoarthritis, osteoporosis and hypogonadism are features

54) A patient presents with a rapid increase in the number and size of these lesions. Your next step should be to:

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A. Reassure the patient that the lesions are benign

B. Order a chest xray

C. Refer the patient for a workup to rule out a gastrointestinal malignancy.Correct Choice

D. Discuss with the patient's PCP re/ altering their diabetic regimen

E. Order a CBC and SPEP/UPEP

The sign of Lesser-Trelat is a rapid increase in the size and/or number of seborrheic keratoses. It can be seen in association with acanthosis nigricans and tripe palms, and may have an associated generalized pruritus. It is associated with gastric or colon carcinoma, can appear before or after the malignancy, and may improve with treatment of the underlying malignancy

55) A 6 month-old has a verrucous plaque on the mucosal surface of the lower lip. Skin biopsy is consistent with Riga-Fede disease. You should refer the patient to:

A. A hematologist

B. An otolarngologist

C. A gastroenterologist

D. An ophthalmologist

E. A neurologistCorrect Choice

Riga-Fede disease is a benign ulcerative granulomatous process that occurs in reaction to chronic, repetitive trauma of the oral mucosa by the teeth. Clinically, it appears as firm, verrucous plaques. It may be associated with an underlying developmental anomaly or underlying neurologic disorder

56) The clinical findings in figure 3 are associated with which disorder?

A. Dermatomyositis

B. Graves disease Correct Choice

C. Rheumatoid Arthritis

D. Myasthenia gravis

E. Sarcoidosis

This slide shows pretibial myxedema in a patient with Grave’s disease

57) All of the following are true regarding Cockayne Syndrome EXCEPT:

A. None of these answers are correct Correct Choice

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B. It is caused by an inability to repair cyclobutane dimers

C. Inheritance is autosomal recessive

D. It is associated with retinal pigment degeneration with a "salt and pepper" appearance

E. It is associated with basal ganglia calcifications

Cockayne Syndrome is an autosomal recessive disorder caused by a mutation of an unknown gene that results in the inability to repair cyclobutane dimers induced by UV exposure. Cutaneous findings include photosensitivity, "bird-headed" facies, and "Mickey Mouse" ears. Statements A-D are true regarding the syndrome

58) Squamous cell carcinoma is seen in which syndrome?

A. Nicolau-Balus syndrome

B. Bazex syndrome Correct Choice

C. Gorlin syndrome

D. Rombo syndrome

E. Rasmussen syndrome

Basex syndrome, also paraneoplastic acrokeratosis, presents with symmetric erythematous, nearly violaceous, psoriasiform dermatoses of the hands, feet, ears and nose. The syndrome is nearly associated with an underlying malignancy, usually squamous cell carcinoma of the upper aerodigestive tract

59) Which of the following is true regarding treatment of inflammatory dermatoses with potassium iodide?

A. The Wolff-Chaikoff effect must be considered

B. The Wolff-Chaikoff effect must be considered and Binding of excess organic iodide in the thryoid gland may occur

C. Thyroid hormone synthesis may be inhibited

D. All of these answers are correctCorrect Choice

E. Binding of excess organic iodide in the thryoid gland may occur

The Wolff-Chaikoff effect is described as the binding of excess organic iodide in the thyroid gland with resultant inhibition of thyroid hormone synthesis. This can occur in the setting of patients with erythema nodosum (or other inflammatory dermatoses) being treated with potassium iodide

60) Which of the following statements regarding multiple endocrine neoplasia syndromes is true?

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A. MEN Type IIA is also known as Wermer's Syndrome

B. Multiple mucosal neuromas are seen in association with MEN Type IIA

C. Lichen or macular amyloidosis is seen in association with MEN Type IIACorrect Choice

D. Patients with MEN Type IIB are at increased risk for developing follicular thyroid carcinoma

E. MEN Type IIB is also known as Sipple's Syndrome

MEN Type I is also known as Wermer's Syndrome. MEN Type IIA is also known as Sipple's Syndrome. Mucosal neuromas are seen in association with MEN Type IIB. Statement D is correct. Patients with MEN Type IIB are at increased risk for developing medullary thyroid carcinoma

61) All of the following are true regarding the condition pictured EXCEPT:

A. Men with this condition may be at increased risk for lymphoma

B. Associated calcinosis cutis may be seen in pediatric patients

C. Age-appropriate cancer screening is recommended

D. May be associated with a psoriasiform scalp dermatitis

E. Elevated aldolase is more specific than CPKCorrect Choice

All of the statements regarding dermatomyositis are true except for statement E. Elevated muscle enzymes are found in dermatomyositis, but elevated CPK is more specific than aldolase. Diagnosis is also established with muscle biopsy showing evidence of inflammation and abnormal EMG

62) This autosomal dominant condition is characterized by trichodiscomas, fibroepithelial polyps, and fibrofolliculomas:

A. POEMS syndrome

B. Cowden's disease

C. Rombo syndrome

D. Proteus syndrome

E. Birt-Hogg-Dube syndrome Correct Choice

Birt-Hogg-Dube is an autosomal dominant condition characterized by trichodiscomas, fibroepilethial polyps and fibrofolliculomas

63) A patient on hemodialysis presents with indurated plaques having a peau d’orange texture on the bilateral lower legs. Which of the following statements is TRUE?

A. The face is usually is affected

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B. Dapsone will likely be effective treatment

C. The diagnostic histopathological findings include acanthosis and hyperkeratosis

D. The palms and soles are usually affected

E. Serum protein electrophoresis should be performedCorrect Choice

This patient likely has nephrogenic fibrosing dermopathy (NFD). NFD is an acquired, idiopathic disorder that occurs in renal disease patients. It resembles scleroderma or eosinophilic fasciitis clinically and scleromyxedema histopathologically. Large areas of indurated skin with fibrotic nodules and plaques develop. The extremities are most commonly involved, followed by the trunk. The face, palms and soles are almost never involved. Histopathologically, NFD displays a proliferation of dermal fibroblasts and dendritic cells, thickened collagen bundles, increased elastic fibers, and mucin deposition. Serum protein electrophoresis and immunoelectrophoresis results are negative unlike scleromyxedema, and may be helpful to distinguish the two diseases. NFD is usually a chronic, progressive condition, and favorable responses to medical intervention are anecdotal

64) All of the following are true regarding calciphylaxis except:

A. Seen in end-stage renal disease

B. Vascular mural calcification occurs late in the processCorrect Choice

C. Association with an elevated calcium: phosphate product

D. Association with hyperparathyroidism

E. High morality rate is due to sepsis

Calciphylaxis is a rare, life threatening disorder that is associated with end stage renal disease. Clinically, patients develop a livedoid purpura and enlarging, tender, indurated subcutaneous plaque typically on the legs or abdomen. These plaques are subject to ischemia, skin necrosis, and secondary infection, sepsis, and death. Histologic examination of calciphylaxis is characterized by the triad of small vessel mural calcivication, extravascular calcification, and vascular thrombosis. It appears that vascular mural calcification is an early and essential process in the development of calciphylaxis

65) All of the following are seen more commonly in Crohn's disease than in ulcerative colitis EXCEPT:

A. Perineal fistulas

B. Pyostomatitis vegetansCorrect Choice

C. Oral cobblestoning

D. Perineal fissures

E. Polyarteritis nodosa

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Pyoderma vegetans consists of vegetating plaques and vesicopustules of intertriginous areas than heal with hyperpigmentation. When the process involves mucosal surfaces it is called pyostomatitis vegetans. These processes are associated with ulcerative colitis, not Crohn's disease

66) Which of the following is FALSE regarding Fabry’s disease?

A. It is associated with acral parasthesias

B. It is inherited in an X-linked recessive fashion

C. The etiology is a defect in alpha-galactosidase A

D. It may be associated with renal failure

E. It is inherited in an X-linked dominant fashionCorrect Choice

Fabry’s disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium. The disorder is caused by a deficiency of alpha-galactosidase-A leading to progressive endothelial accumulation of glycosphingolipids. This accumulation accounts for the associated clinical abnormalities of skin, eye, kidney, heart, brain, and peripheral nervous system. Acroparesthesias are a frequent presenting symptom of Fabry’s disease. The primary cutaneous manifestation are angiokeratomata (angiokeratoma corporis diffusum), which are most common in a “bathing-trunk” distribution. Lens opacities and retinal and conjunctival vascular malformations may be found in the eyes. Patients may experience cardiac disease, stroke or renal failure

67) Which of the following statements about multiple endocrine neoplasia (MEN) syndromes is FALSE?

A. MEN I is associated with angiofibromas and collagenomas

B. MEN IIa is related to a defect in RET proto-oncogene

C. MEN I, IIa and IIb are all inherited in an autosomal dominant fashion

D. MEN IIa is associated with multiple mucosal neuromasCorrect Choice

E. MEN IIa and IIb are both associated with medullary thyroid carcinoma

Multiple endocrine neoplasia (MEN) syndromes are divided into types I, IIa and IIb. All are autosomal dominantly inherited. Type I is associated with mutations in MENI; type IIa and IIb involve mutations of RET, which encodes a tyrosine kinase receptor. Type I has the following cutaneous features: facial angiofibromas, collagenomas, lipomas, hypopigmented macules and café-au-lait macules. Type IIa displays macular amyloidosis, while IIb features multiple mucosal neuromas. Systemic features of type I include peptic ulcer disease (as part of Zollinger-Ellison syndrome), parathyroid hyperplasia or adenoma, pancreatic tumors and pituitary neoplasia. Type IIa is characterized by Zollinger-Ellison syndrome, medullary thyroid carcinoma, pheochromocytoma, and parathyroid neoplasia. Type IIb displays marfanoid habitus, Hirschsprung disease, medulloblastoma, medullary thyroid carcinoma, pheochromocytoma and ocular neuromas

68) Which of the following is true regarding nephrogenic fibrosing dermopathy?

A. Is associated with a dramatic increase in dermal mucin

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B. May be associated with antiphospholipid antibodiesCorrect Choice

C. Has a rapidly progressive but reversible course

D. Is associated with a paraproteinemia

E. Is associated with peripheral eosinophilia

Nephrogenic fibrosing dermopathy has an indolent course and treatment is usually not satisfactory. It is not associated with a paraproteinemia or peripheral eosinophilia. Some patients have been reported to have antiphospholipid antibodies. Histopathology demonstrates a minimal to slight increase in dermal mucin

69) All of the following are seen more commonly in ulcerative colitis than in Crohn's disease except:

A. Pyoderma gangrenosum

B. Erythema nodosum

C. Chronic apthous ulcers

D. Pyoderma vegetans

E. Polyarteritis nodosaCorrect Choice

Polyarteritis nodosa is associated with Crohn's disease and not ulcerative colitis

70) A patient with multiple red-brown papules arranged around the nail folds and “operaglass fingers” may have all of the following associated findings except:

A. Underlying malignancy

B. Fever and weight loss

C. Multinucleate giant cell infiltrate

D. Progressive cutaneous diseaseCorrect Choice

E. Mutilating arthritis

Multicentric reticulohistiocytosis is a rare disorder characterized by mutilating arthritis and cutaneous nodules. Involvement may also include the mucosa, synovia, and internal organs. On the skin, patients may have non-tender, reddish-brown nodules on the face, hands (coral bead appearance), ears, forearms, scalp, neck, and eyelids. These nodules have a histiocytic infiltrate with multinucleated giant cells with a ground glass appearance. Multicentric reticulohistiocytosis has been reported in association with carcinoma of the colon, breast bonchus, cervix, ovary, stomach, mesothelioma, and melanoma

71) Each of the following demonstrates a vasculitis except:

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A. Henoch-Schoenlein purpura

B. Granuloma faciale

C. Type 1 cryoglobulinemiaCorrect Choice

D. Leukocytoclastic vasculitis

E. Wegener’s granulomatosis

In type I cryoglobulinemia, monoclonal IgG or IgM cryoglobulins are found often in association with lymphoma, leukemia, Waldenstrom’s macroglobulinemia, or multiple myeloma. On histopathology, type I cryoglobulinemia is characterized by the deposition of precipitated amorphous cryoglobulins on the endothelium and throughout the vessel wall. The precipitates stain with PAS stain. An inflammatory infiltrate is typically lacking in contrast to mixed cryoglobulinemia (which shows a leukocytoclastic vascultitis)

72) Regarding carcinoid syndrome, which of the following is TRUE?

A. The most common location for the tumor is the rectum

B. Somatostatin is a preferred treatmentCorrect Choice

C. VMA is elevated in the urine

D. Symptoms are caused by metastases to the skin

E. The tumors should not be removed

Carcinoid syndrome is caused by a tumor originating in the endocrine argentaffin cells. In order of descending frequency, the most common locations are appendix > small bowel > rectum. Patients experience facial flushing that descends anatomically, diarrhea, hyperhidrosis and bronchial reactivity. A pellagra-like eruption may occur as well as telangiectasia and sclerodermoid changes. Patients experience symptoms once the disease metastasizes to the liver or if it did not involve the GI tract initially. Diagnosis can be made finding elevated 5-hydroxyindolacetic acid (5-HIAA) in the urine. Nitrosonaphthol turns urine purple if 5-HIAA levels are significantly elevated, and can be used as a screening test. Bananas, tomatoes, plums, avocadoes and eggplant can increase levels of 5-HIAA. Treatment involves removal of the tumor along with medical therapy if appropriate. Agents used include somatostatin, methylsergide, cyproheptadine, and beta blockers. Vanillylmandelic acid (VMA) is an important urinary metabolic product of epinephrine and norepinephrine and is detected in the diagnosis of pheochromocytoma

73) Which of the following statements regarding Menkes Disease is true?

A. Diagnosis is made by elevated serum ceruloplasmin

B. Males with the disease may have cutaneous hypopigmentation

C. It is caused by a mutation of the ATP7A geneCorrect Choice

D. It is autosomal recessive

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E. Patients with the disease rarely have systemic findings

Menkes Disease in an X-linked recessive disorder caused by mutations of the ATP7A gene encoding a copper-transporting ATPase. It is lethal in males. Systemic findings include severe psychomotor retardation, seizures, and growth failure. Diagnosis is made by low serum ceruloplasmin

74) The disorder in the figure is:

A. Cutis verticis gyrata Correct Choice

B. Discoid lupus

C. Tinea capitis

D. Dissecting cellulites

E. Alopecia mucinosis

This is a picture of cutis vertices gyrata, a condition which can be seen in association with primary amyloidosis

75) Patients with this syndrome are at increased risk for developing Lhermite-Duclos disease:

A. Fabry's Disease

B. MEN Type IIA

C. Bourneville's Disease

D. Nail-Patella Syndrome

E. Cowden's SyndromeCorrect Choice

Patients with Cowden's Syndrome (multiple hamartoma syndrome) are at increased risk for Lhermite Duclos disease (dysplastic gangliocytoma of the cerebellum).

76) The disorder shown in the figure is:

A. Pretibial myxedema

B. Lichen amyloidosis

C. Lichen planus Correct Choice

D. Lichen simplex chronicus

E. Psoriasis

These lesions are characteristic for lichen planus.Lichen planus is a rare disorder in young children causing violaceous papules with sharp demarcation and scales. You can induce more of these lesions by scratching the skin surface (Koebner phenomenon). The most common form of the

27

disorder is the acute eruptive form where lesions erupt like a viral exanthem and cover most of the body surface. Treatment is supportive—antihistamines, topical steroids and rarely systemic steroid therapy

77) The peak sensitivity to prophyrins occurs at which wavelengths?

A. 320-400nm

B. 290-320nm

C. 400-410nmCorrect Choice

D. 410-450nm

E. 220-290nm

The Soret band (400-410 nm) is the portion of ultraviolet wavelengths at which most porphyrins are most sensitive

78) The patient demonstrated in figure 6 would have:

A. LDL receptor deficiency

B. Decreased triglycerides

C. Decreased LDL

D. Decreased chylomicrons

E. Elevated triglycerides Correct Choice

This patient has eruptive xanthomas, a condition which is classically associated with elevated serum triglycerides

79) One might see all of the following laboratory and clinical abnormalities in cryoglobulinemia associated with hepatitis C virus infection EXCEPT:

A. Acrocyanosis

B. Urticarial plaques

C. Elevated liver function tests

D. Elevated C3 levelsCorrect Choice

E. Positive rheumatoid factor

Laboratory abnormalities of HCV include an elevation of liver enzymes, positive rheumatoid factor (70-90%), and DEPRESSED C3 levels. Classical clinical presentation includes palpable purpura, arthralgias, and glomerulonephritis. Livedo reticularis, hemorrhagic bullae, acrocyanosis, and urticarial plaques can also be found

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80) Carotenemia can be a manifestation of:

A. Graves disease

B. Amyloidosis

C. Porphyria

D. Pretibial myxedema

E. HypothyroidismCorrect Choice

Reduced matabolism of beta-carotene in the diet, can result in yellowing of the skin in hypothyroidism. Treatment of porphyria with beta-carotene can result in carotenemia. Pretibial myxedema, Graves disease and amyloidosis do not result in carotenemia

81) A patient presents with mild mental retardation, infertility, joint contractures, short stature, ichthyosis, and sparse hair with trichoschisis. All of the following are true regarding this patient's condition EXCEPT:

A. The syndrome is caused by impaired nucleotide excision repair

B. Patients may have associated cataracts

C. Perifoveal glistening white dots are a featureCorrect Choice

D. If photosensitivity is a feature, gonad size may be normal

E. This syndrome is inherited in an autosomal recessive manner

The patient described has IBIDS syndrome (Ichthyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature), or Tay's syndrome. This syndrome is autosomal recessive, caused by mutations in the ERCC2/XPD or ERCC3/XPB genes, resulting in impaired nucleotide excision repair. Cataracts may be a feature. If photosensitivity is a feature (PIBIDS), gonal size is normal. Perifoveal glistening white dots are a feature of Sjorgen-Larsson Syndrome, not IBIDS

82) This syndrome is cause by defects in the genes that code for tumor suppressor proteins hamartin and tuberin.

A. Bourneville's DiseaseCorrect Choice

B. Cronkhite-Canada Syndrome

C. Blue Rubber Bleb Nevus Syndrome

D. Bannayan-Riley-Rubalcaba Syndrome

E. Cowden's Syndrome

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Tuberous sclerosis, also known as Bourneville's Disease, is an autosomal dominant neurocutaneous disorder due to mutations in the TSC1 and TSC2 genes which code for the tumor suppressor proteins hamartin and tuberin, respectively

83) Which of the following is characteristic of diabetic skin?

A. Candida tropicalis is the most common cause of angular cheilitis

B. The level of cleavage in bullous diabeticorum is subcorneal

C. Yellow skin may occur in up to 10% of diabeticsCorrect Choice

D. There is a well-established association between deep granuloma annulare (GA) and diabetes

E. Approximately 20% of diabetics have necrobiosis lipoidica diabeticorum (NLD)

Perhaps 0.3 to 3% of diabetics have NLD, whereas approximately 20% of NLD patients have diabetes or glucose intolerance. The split in bullous diabeticorum is normally either intraepidermal or subepidermal. C. albicans is the most common cause of diabetes-related yeast infections. The association between GA and diabetes is controversial, but if the two are related, generalized and perforating GA have been implicated. Yellow skin may occur in up to 10% of diabetic patients and is characterized by diffuse yellow-orange skin. Half of these patients have elevated serum carotene levels. The suggested is cause is elevated consumption of yellow fruits and vegetables in the setting of impaired hepatic metabolism of carotene and subsequent non-enzymatic glycosylation of dermal collagen

84) All of the following are true regarding Henoch-Schonlein Purpura EXCEPT:

A. It may be complicated by intussusception

B. It is self-resolving

C. Direct immunofluorescence of lesional and peri-lesional skin will demonstrate C3 and fibrin deposits in small vessel wall

D. It is an IgG mediated small vessel vasculitisCorrect Choice

E. It is often preceded by an upper respiratory infection

Henoch-Schonlein Purpura (HSP) is an IgA mediated small vessel vasculitis. Clinically, patients present with palpable purpura of the lower extremities and buttocks, GI vasculitis, and glomerulonephritis

85) Which of the following statements about necrolytic migratory erythema is TRUE?

A. Serum glucagon levels are usually normal

B. The offending tumor originates from endocrine argentaffin cells

C. Vacuolar changes are normally found on routine histology

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D. Acanthosis and parakeratosis are found on routine histologyCorrect Choice

E. There is a low incidence of metastasis of the offending tumor at the time of diagnosis

Necrolytic migratory erythema or glucagonoma syndrome is clinically characterized by periorificial and acral erythema, vesicles, pustules and erosions. A circinate pattern is often seen. Glossitis and cheilitis are features as well. The underlying tumor is an alpha-2 glucagon producing islet cell pancreatic carcinoma, which is metastatic at the time of diagnosis in the majority of cases. Histopathological findings include dyskeratotic keratinocytes in the stratum granulosum, acanthosis and parakeratosis. Serum glucagon levels are elevated. The tumors must be resected if feasible, and intravenous somatostatin and amino acids have been used for treatment

86) The deficient enzyme of the condition seen in the figure is:

A. Uroporphyrinogen decarboxylase Correct Choice

B. Ferrochetalase

C. dALA synthetase

D. Uroporphyrinogen synthetase

E. Porphobilinogen deaminase

A patient with porphyria cutanea tarda is shown. The associated enzyme deficiency is uroporphyrinogen decarboxylase

87) Which of the following is NOT true regarding calciphylaxis?

A. May be present with retiform purpura

B. Patients with proximally-located lesions have a better prognosis than those with acral lesionsCorrect Choice

C. Has an associated mortality of 60-80%

D. May be treated with parathyroidectomy

E. Histologic findings include medial calcification and intimal hyperplasia of small arteries and arterioles

Distribution of lesions in calciphylaxis may predict prognosis; those with acral lesions have a better outcome than those with proximally located lesions

88) Porphyria cutanea tarda may be associated with all of the following except:

A. Estrogens

B. Hepatitis C virus infection

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C. Alcohol

D. Inherited deficiency of uroporphyrinogen III synthase Correct Choice

E. Polyhalogenated hydrocarbons

A homozygous defect in uroporphyrinogen III synthase in a cause of congenital erythropoietic porphyria, not porphyria cutanea tarda (PCT). PCT may be caused by sporadic or familial deficiency in uroporphyrinogen decarboxylase, or by any of the other causes listed above

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