Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

[epidermolysis bullosa simplex]

Mutations in the PLEC 1 gene encoding plectin have been reported in neonatal epidermolysis bullosa simplex with muscular dystrophy of later-onset (EBS-MD ). A neuromuscular transmission defect has been reported in one previous patient . We report a boy presenting from birth with features of a congenital muscular dystrophy and late-onset myasthenic symptoms . Repetitive nerve stimulation showed significant decrement , and strength improved with pyridostigmine . Subtle blistering noticed only retrospectively prompted further genetic testing , revealing recessive PLEC 1 mutations . We conclude that PLEC 1 should be considered in the differential diagnosis of congenital muscular dystrophies and myasthenic syndromes , even in the absence of prominent skin involvement .