Epidermolysis bullosa simplex with mottled pigmentation. Case report and review of the literature.
Epidermolysis bullosa simplex with mottled pigmentation. Case report and review of the literature.
复制标题
单纯性大疱性表皮松解症，伴有斑驳色素沉着。
作者：
P. Combemale;Jean Kanitakis
单纯性大疱性表皮病伴斑驳性色素沉着（EBS-MP）是一种罕见的遗传性皮肤病，迄今仅报道4个家系。我们在此提出了一个新的家族EBS-MP包括一个特殊的点状指角化病。先证者是一位18岁的患者，自出生以来就患有创伤后大疱，随后出现斑驳性色素沉着、足底角化病、指甲营养不良和手指特有的点状角化病。大疱性病变的组织学、免疫荧光和电子显微镜显示表皮内分裂以及基底角质形成细胞、真皮巨噬细胞和许旺细胞内黑素体数量增加。导致EBS-MP的确切遗传缺陷尚不清楚，但可能是由于两种不同的密切相关的突变。EBS-MP和其他形式的EBS以及遗传性大疱性异皮性肢端角化病的病例之间的疾病分类学关系进行了讨论。
Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare genodermatosis of which only 4 pedigrees have so far been reported. We present herein a new family with EBS-MP comprising a peculiar punctate digital keratoderma. The propositus was an 18-year-old patient who had suffered since birth from posttraumatic bullae, followed by mottled pigmentation, plantar keratosis, nail dystrophy and peculiar punctate keratoses of the fingers. Histology, immunofluorescence and electron microscopy of a bullous lesion showed an intraepidermal cleavage and an increased number of melanosomes within basal keratinocytes, dermal macrophages and Schwann cells. The precise genetic defect responsible for EBS-MP is not known but could be due to two distinct, closely linked mutations. The nosologic relationship between EBS-MP and other forms of EBS as well as cases of hereditary bullous poikilodermic acrokeratosis is discussed.