Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients.

BACKGROUND: The spectrum of Dowling-Degos disease-reticulate acropigmentation of Kitamura (DDD-RAK) is a group of rare autosomal dominant disorders that have in common a unique histological picture of hyperpigmented digitate epidermal 'downgrowths'. Patients with the DDD-RAK spectrum may show hyperpigmented macules and papules, facial pits, breaks in dermatoglyphics and epidermoid cysts.

OBSERVATIONS: We examined 5 unrelated patients, 3 females and 2 males (age range 22-35 years), who presented with clinical and histological features of the DDD-RAK spectrum. In addition, the patients presented with hypo- or depigmented macules and papules. Histopathology of the lesions revealed features that were identical to DDD-RAK; there were, however, diminution or absence of pigmentation. Family histories for pigmented lesions and leukoderma were positive in all patients and consistent with autosomal dominant modes of inheritance.

CONCLUSION: These 5 cases, together with isolated reports in the literature of achromic lesions with histological features of DDD-RAK, point to the hypothesis that achromic macules and papules may be a feature of the DDD-RAK spectrum.