Post on 13-Dec-2014
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
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
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.