Question
A patient presented with palmar pits with reticular pigmentation. Name the disease in which it is seen?
A. Dowling-Degos disease
B. Rothmund Thomson syndrome
C. Cockyane syndrome
D. Bloom’s syndrome
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Correct Answer » A Explanation |
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The given condition is seen in Dowling-Degos disease.
Dowling-Degos disease presents as asymptomatic post-pubertal, symmetrical, progressive, reticular pigmentation involving flexural-areas (flexor folds) with scattered comedo like lesions (dark dot follicles) and pitted aceniform scars near angles of mouthQ.
Reticular acropimentation of kitamura presents with reticular freckle like pigmentation on dorsal hands, palmar pitsQ and breakage of epidermal ridge pattern.
Cockayne’s syndrome, Bloom’s syndrome and Rothmund-Thomson syndrome are genodermatoses with defective DNA repairing, presenting as photo sensitivity.
Dowling-Degos disease Dowling-Degos disease (reticular pigmented anomaly of flexures) is a rare autosomal dominant genodermatoses usually presenting post pubertally with multiple small, round pigmented macules that resemble freckles. Pigmentation is symmetrical and progressive; and the lesions become progressively more numerous and reticulate with time. It characteristically involves flexurals areasQ e.g: axillae, groins (mc sites), intergluteal/ infra-mammary folds, neck, scalp, trunk, arms and genitals. Except pigmentation, it is otherwise asymptomatic (rarely pruritic). Scattered comedo like lesions (dark dot follicles) pitted acneiform scars near angels of mouthQ and hidradenitis suppurativa are other features.
Histology is diagnostic, with a distinctive form of acanthosis, characterized by an irregular elongation of rete ridges, with a concentration of melanin at the tips (filiform down growths in epidermis withhyperpigmentation of deepest areas); the melanocyte count being normal. It involves follicular infundibulum with follicular plugging in some cases.
Reticulate acropigmentation of Kitamura Reticulate acropigmentation of kitamura is characterized by a reticulate network of freckle like areas of pigmentation which develop on dorsa of hands in first 2 decades, which may subsequently involve most parts of body. Palmar pits and breakages of epidermal ridge pattern are foundQ. Histologically, the pigmented macules show epidermal atrophy and increased number of melanocytes.
Hereditary symmetrical dyskeratosis of extremities (reticulate acropimentation of Dohi) is AD disorder presenting in infancy or early childhood as mottled pigmentation with areas of depigmentation on dorsa of hands and feet or arms and legs.
