Irvine A D, McKenna K E, Jenkinson H, Hughes A E
Department of Medical Genetics, The Queen's University of Belfast, Northern Ireland, United Kingdom.
J Invest Dermatol. 1997 May;108(5):809-10. doi: 10.1111/1523-1747.ep12292263.
Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP; MIM no 131960) is an autosomal dominant disorder characterized by skin blistering at acral sites, punctate palmo-plantar hyperkeratoses, and mottled pigmentation of the trunk and proximal extremities. Histologically and ultrastructurally, the blistering in EBS-MP closely resembles that found in other EBS subtypes. This is consistent with a disorder of the basal keratinocyte cytoskeleton, in which several groups have found disease-causing mutations within the central rod domains of keratins 5 and 14. We have identified a C --> T transition at base position 71 of K5 causing a P24L substitution in a sporadic case of EBS-MP. Recently, this same mutation was identified in two unrelated families with EBS-MP.
伴有斑驳色素沉着的单纯性大疱性表皮松解症（EBS-MP；MIM编号131960）是一种常染色体显性疾病，其特征为肢端皮肤水疱形成、掌跖点状角化过度以及躯干和近端肢体的斑驳色素沉着。在组织学和超微结构上，EBS-MP中的水疱形成与其他EBS亚型极为相似。这与基底角质形成细胞细胞骨架紊乱一致，已有多个研究小组在角蛋白5和14的中央杆状结构域内发现了致病突变。我们在一例散发的EBS-MP病例中，于K5基因第71位碱基处鉴定出一个C→T转换，导致P24L替代。最近，在两个无关的EBS-MP家族中也发现了相同的突变。
