Huidfragiliteit met vlekkige pigmentatie door transporteiwit Slac2-b-afwijkingen

Epidermolysis bullosa (EB) caused by EXPH5 mutations, is an recently identified and extremely rare subtype. We describe a novel homozygous nonsense mutation in the EXPH5 gene in a 15-year-old woman. EXPH5 encodes the vesicle transport protein 'synaptotagmin-like homologue lacking C2 domains B' (Slac2-b, also known as exophilin- 5) and is involved in epidermolysis bullosa simplex with cleavage in the basal cell layer. The phenotype of this case was characterized by mottled pigmentation (MP), which developed when the patient was ten years old. By means of electron microscopy image analysis, we propose a hypothesis for the pigmentary changes associated with Slac-2b anomaly. This patient that we have described is one of the oldest with EXPH5 mutations reported up to now, which possibly allowed for the 'lateonset' MP.