Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.

[epidermolysis bullosa simplex]

Epidermolysis bullosa associated with muscular dystrophy is a rare , autosomal recessive form of epidermolysis bullosa simplex caused by mutations in the plectin gene , PLEC 1 . We describe a phenotypically mild case due to compound heterozygous mutations in PLEC 1 (2677 _2685 del and the novel mutation Q 1644 X ). Clinical features included mild skin blistering since birth , slowly progressive and late-onset upper limb -predominant weakness , facial weakness , ptosis , incomplete ophthalmoplegia , and paroxysmal atrial fibrillation .