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Dermatology · Pigmentary disorders: Dowling-Degos disease
Sample itemA woman has had progressive reticulate brown hyperpigmentation of the axillae, groins and neck folds since adolescence, with comedo-like pitted scars on the back. Several relatives are affected. What is the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Dowling-Degos disease
Dowling-Degos disease is an autosomal dominant reticulate pigmentary disorder of flexures, from KRT5 or POFUT1 mutations. Histology shows elongated filiform rete ridges with basal hyperpigmentation.
Option by option
A. Dowling-Degos disease (correct)
Correct. Familial flexural reticulate pigmentation with pitted scars is Dowling-Degos disease.
B. Acanthosis nigricans
Acanthosis nigricans shows velvety thickened skin with insulin resistance.
C. Dyskeratosis congenita
Dyskeratosis congenita shows reticulate pigmentation, nail dystrophy and oral leukoplakia.
D. Confluent and reticulated papillomatosis
Confluent and reticulated papillomatosis involves the upper trunk with papillomatous plaques.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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