Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree.

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare variant of the basal form of EBS, characterized by mild intraepidermal blistering due to lysis of basal keratinocytes and with a progressive reticular hyperpigmentation on the trunk and extremities. A limited number of cases - to date twenty unrelated families - have been published from all over the world, including thirteen reports from Europe. We here report the first Hungarian case in a four generation pedigree with EBS-MP symptoms and prove the diagnosis by mutation analysis.