EPIDERMOLYSIS-BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION - CASE-REPORTAND REVIEW OF THE LITERATURE

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare genodermatosis of which only 4 pedigrees have so far been reporte d. We present herein a new family with EBS-MP comprising a peculiar pu nctate digital keratoderma. The propositus was an 18-year-old patient who had suffered since birth from posttraumatic bullae, followed by mo ttled pigmentation, plantar keratosis, nail dystrophy and peculiar pun ctate keratoses of the fingers. Histology, immunofluorescence and elec tron microscopy of a bullous lesion showed an intraepidermal cleavage and an increased number of melanosomes within basal keratinocytes, der mal macrophages and Schwann cells. The precise genetic defect responsi ble 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 acro keratosis is discussed.