Combemale P, Kanitakis J
Departments of Dermatology, Hôpital d'Instruction des Armées Desgenettes, Lyon, France.
Dermatology. 1994;189(2):173-8. doi: 10.1159/000246826.
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.
伴有斑驳色素沉着的单纯性大疱性表皮松解症（EBS-MP）是一种罕见的遗传性皮肤病，迄今为止仅报道了4个家系。我们在此报告一个新的EBS-MP家系，其具有特殊的点状指部角化病。先证者是一名18岁患者，自出生以来就患有创伤后水疱，随后出现斑驳色素沉着、足底角化病、甲营养不良以及手指特殊的点状角化病。对一个水疱性损害进行组织学、免疫荧光和电子显微镜检查显示表皮内裂隙形成，并且基底角质形成细胞、真皮巨噬细胞和施万细胞内黑素体数量增加。导致EBS-MP的确切基因缺陷尚不清楚，但可能是由于两个不同但紧密连锁的突变所致。本文讨论了EBS-MP与其他形式的EBS以及遗传性大疱性异色性肢端角化病病例之间的疾病分类学关系。
