Coleman R, Harper J I, Lake B D
Department of Dermatology, Hospital for Sick Children, London, U.K.
Br J Dermatol. 1993 Jun;128(6):679-85. doi: 10.1111/j.1365-2133.1993.tb00265.x.
A family in which epidermolysis bullosa simplex and mottled pigmentation are inherited as an autosomal dominant disorder is described. Clinical features include: non-scarring blistering, mainly affecting the limbs, mottled pigmentation, predominantly affecting the trunk and neck, warty hyperkeratotic papules of the palms and soles, small red scaly plaques, and skin atrophy. Histology showed an atrophic epidermis, basal cell lysis and significant colloid body formation in an infant from the family.
本文描述了一个家族,其中单纯性大疱性表皮松解症和斑驳色素沉着作为常染色体显性疾病遗传。临床特征包括:非瘢痕性水疱,主要影响四肢;斑驳色素沉着,主要影响躯干和颈部;手掌和足底的疣状角化过度丘疹;小红斑鳞屑;以及皮肤萎缩。组织学检查显示,该家族一名婴儿的表皮萎缩、基底细胞溶解并形成大量胶样小体。