CPCThomas Ruenger

Muhammad Khawar Nazir

01-08-10

Case 1

Ochronosis

• 2 Types: endogenous (alkaptonuria) and exogenous.

• Alkaptonuria is a rare autosomal recessive disorder caused

by the lack of renal and hepatic homogentisic acid oxidase.

• The enzyme necessary for the catabolism of homogentistic

acid to acetoacetic and fumaric acid.

• Thus homogentisic acid is excreted in the urine which on

exposure to oxygen or on alkalinization turns black .

Ochronosis

• Alkaptonuria is characterized by the clinical triad of urinary excretion

of homogentisic acid, ochronosis and ochronotic arthropathy.

• The most important clinical manifestation is ochronotic arthritis

involving the spine and the large weight-bearing joints.

• The large joints reveal marked pig. of articular cartilage, and

synovia.

• Cardiovascular involvement occurs in 50% of cases, usually shows

extensive pigment deposition of the aortic valve with subsequent

aortic stenosis.

Ochronosis

• Pigmentation of connective tissue is common, especially the

cartilage of the joints, ear and nose, and in ligaments and tendons.

• Pigmentation of sclera occurs in 70% of cases, called Osler's sign.

• Patchy brown pigmentation of skin occurs due to accumulation of

pigment over many years. This is more common on sun-exposed

areas or areas with numerous sweat glands.

• The axillae, groin and ear are the most common sites of pigment

deposition.

Ochronosis

• Exogenous ochronosis refers to blue-black discoloration of

the skin following application of hydroquinone, phenol,

mercury and resorcinol to lighten the skin and is limited to the

areas exposed to the agent.

• As the disorder progresses, papules, nodules or milia can

occur.

• Treatment with dermabration and CO2 laser has been

effective.

Ochre-brown pigment within swollen collagen bundles

Irregular, bizarre-shaped or crescentic pigmented collagen bundles with jagged or pointed ends.

Pigment granules in the basement membrane of the sweat ducts.

Case 2

increased melanin pigmentation inthe basal epidermis (Fontana-Masson stain)

• basal layer hyperpigmentation and pigmentary incontinence• increased number and size of melanosomes in the basal keratinocytes may be seen on electron microscopy

Flagellate Pigmentation from Bleomycin

• Occurs in 8-20% of patients treated with systemic

bleomycin

• Linear hyperpigmented streaks are seen on the chest

and back and less often on the extremities

• Reversible when the drug is discontinued

• Additional findings include circumscribed

hyperpigmentation of the skin overlying the small joints

of the hands

Case 3

JAAD 2001 Iotaderma (#84)

The “deck chair sign” refers to sparing of the creases in skin folds in an erythroderma consisting of confluent flat-topped pink papules and associated with a peripheral eosinophilia.

What is the eponymic name for the disease in which the “deck chair sign” occurs?

Answer: Papuloerythroderma of Ofuji

Ofuji S, Furukawa F, Miyachi Y, Ohno S. Papuloerythroderma. Dermatologica 1984;169:125-30.

Ofuji's Papuloerythroderma

Ofuji's Papuloerythroderma• Diffuse, papular erythroderma which spares the skin folds, creating the is characteristic ‘deckchair sign’

• Many of these patients have a peripheral eosinophilia, and some lymphadenopathy

• Recently thought to be not a single entity but instead a pattern of expression of various inflammatory dermatoses, including lymphoma, hypereosinophilic syndrome, cancers, atopic dermatitis, tinea versicolor, and drug reactions

• The work-up should include the exclusion of the above-mentioned entities, especially lymphoma.

Case 4

Histology

• Marked decrease in the thickness of the dermis • Normal epidermis • Abnormal collagen fibers arranged in thin fibers

rather than in bundles • Subcutaneous fat extends through the dermis

and encroaches on the epidermis in some areas• Thin collagen fibers : seen bt. the lobules of

subepidermal adipose tissue. • EM: fine filamentous structures , normal-

appearing collagen fibers

PIEZOGENIC PEDAL PAPULES

PIEZOGENIC PEDAL PAPULES

• herniation of fat through the dermis. • Common• Non-hereditary• not the result of an inherent connective

tissue defect• Rarely found asso. with EDS

• No racial predisposition• Sex: women ( obesity) > men• Age: any age• asymptomatic • No treatment required• If the condition is painful, patients may

report limitation of occupational or sporting activities.

Features

• Skin color, compressible papule

• Common : lateral heels,bilaterally; volar wrists

• Examine patients standing with their full weight on the heels.

• Papules resolve when the weight is removed

Causes

• No specific

• believed to be sporadic.

• more common overweight, prople with orthopedic problems ( flat feet), & may occur more commonly in persons with collagen disorders such as EDS.

Differential Diagnosis

• Nevus lipomatosus superficialis

• EDS

Case 5

Histopathology of Scleromyxedema

Typical triad of - fibrosis - proliferation of irregularly arranged

fibroblasts - interstitial deposits of mucin in the upper

and mid-reticular dermis. : Mucin deposits splay collagen bundles in

the dermis, but there is only slight fibroblast proliferation and no sclerosis.

Scleromyxedema

Scleromyxedema

• = Generalized papular mucinosis• Adults, M=F• Chronic, progressive, pruritic• Multiple waxy/shiny papules, coalesce into

plaques• Dorsal hands, face, elbows, ears, extensor

extremities, leonine facies• Doughnut sign• Visceral: GI, pulm., musculoskeletal, CNS

Differential Diagnosis

• Mucin deposition

• Fibroblast proliferation

• Fibrosis

• Normal thyroid function tests

• Monoclonal gammopathy, usually IgGλ type

• Bone marrow: N or incr. plasma cells, or myeloma

Differential Diagnosis

• Folliculotropic mycosis fungoides

• Scleroderma

• Amyloidosis

• Nephrogenic fibrosing dermopathy

Treatment and Prognosis

• Physiotherapy

• Systemic steroids

• Retinoids, plasmapheresis, photopheresis

• IVIG, EBT, PUVA, IFN, CyA, IL kenalog

• Melphalan, cyclophosphamide

• Autologous stem cell transplant

• Prognosis poor

Case 6

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Minocycline pigmentation

Clinical-minocycline pigmentation

• Blue-black discoloration in areas of prior inflammation-acne scars (type I).

• Blue-black on shins (type II).• Generalized muddy brown hyperpigmentation,

accentuated in sun-exposed areas (type III)-uncommon.

• Teeth-grey or grey green on midportion of tooth (different than tetracycline, brown).

• Can also affect sclera, ears,bone, thyroid, nailbed.

Path: Minocycline pigmentation

• Brown dermal pigment

• Positive with iron and melanin stains

• Pigment granules within dermal macrophages.

Case 7

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Kyrle Disease (Acquired perforating

dermatoses)

Clinical-Kyrle

• Associated with renal failure and/or diabetes• 4-10% of dialysis patients-usu legs• Variable itchiness.• Felt to be a response to trauma-the scratching in

reponse to pruritis of renal failure.• Tx:PUVA, UVB, Hydration, retinoids, renal

transplantation.

Path-Kyrle’s

• Hyperkeratotic plug, sometimes associated with follicular orifices.

• Parakeratosis and dyskeratosis.• Epidermal hyperplasia• No elastic fibers or collagen fibers within

plug.• Foreign body giant cells in the dermis at

perforation site.

Case 8

Pathology• Mild epidermal acanthosis,

spongiosis, and focal parakeratosis

• Superficial lymphocytic infiltrate, with focal lymphocytic exocytosis can be seen

• Edema of papillary dermis

Papular acrodermatitis of childhood (Gianotti-Crosti)

• A self-limited childhood exanthem that manifests characteristically in an acral distribution

• In the US, most commonly associated with EBV. The original report was with HBV.

• Affect mostly children from 3months to 15 years of age, with average at 2 years of age

• In children, both genders are equally affected. However, in adults, reported cases have been mostly women.

• Monomorphous skin-colored papules or papulo-vesicles localized symmetrically and acrally over the extensor surfaces of extremities, buttocks and face.

• Eruption lasts from 10 days to 6 weeks. Complete resolution often takes more than 2 months.

• May have associated constitutional symptoms such as fever, lymphadenopathy.