Department of Dermatology and Venerology, B.P. Koirala Institute of Health Sciences, Dharan, Nepal.
Department of Pathology, B.P. Koirala Institute of Health Sciences, Dharan, Nepal.
Kathmandu Univ Med J (KUMJ). 2021;19(73):146-147.
Dyschromatosis universalis hereditaria (DUH) is a rare pigmentary genodermatosis usually inherited in autosomal dominant fashion characterized by multiple pinpoint to pea-sized hypo- and hyper-pigmented macules arranged in reticulate pattern that develops within the first few years of life. An 11 years old boy presented with multiple gradually progressive asymptomatic hypopigmented macules on hyperpigmented background on trunk, extremities and face since 2 years of age. Family history was absent. Punch biopsies revealed increased number of melanocytes in the epidermis with basal cell vacuolar alteration and pigmentary incontinence and perivascular infiltration by lymphocytes and melanophages in the dermis. We herein present a sporadic case of dyschromatosis universalis hereditaria.
遗传性全身色素异常症（DUH）是一种罕见的色素性皮肤遗传病，通常以常染色体显性遗传方式遗传，其特征是在生命的头几年内出现多发性针尖至豌豆大小的色素减退和色素沉着斑，呈网状排列。一名 11 岁男孩 2 年前开始出现躯干、四肢和面部逐渐增多的无症状性色素减退斑，伴色素沉着斑背景。家族史无。皮肤活检显示表皮内黑素细胞数量增加，基底细胞空泡改变，色素失禁，真皮内小血管周围淋巴细胞和黑素细胞浸润。本文报道了一例散发性遗传性全身色素异常症。
