463 Guttate leukoderma as the predominant feature of epidermolysis bullosa simplex caused by a novel EXPH5 mutation

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Inherited epidermolysis bullosa (EB) are a heterogeneous group of skin fragility disorders, due to mutations in genes, encoding structural proteins involved in cell-cell or cell-matrix adhesion. One of the rare and recent subtypes of EB simplex, is due to bi-allelic mutations in EXPH5 gene, which encodes exophilin5/ synaptotagmin-like protein lacking c2 domains b (Slac2-b). To date, only 10 patients with EB simplex resulting from EXPH5 mutations have been described, characterized by early onset skin fragility, mainly on the extremities, with a variable degree of pigmentary alteration such as mottled pigmentation and hypopigmentation.