494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation

Abstract

A 26-year-old female presented with epidermolysis bullosa prurogompsa (EBP) since infancy, hair loss, proximal motor weakness, nasal tone speech, swallowing problem, and droopy eyes at age 20. Upon neurological examination, normal cognition, inability to walk unassisted, bilateral ptosis with full range of extraocular movements, weak gag reflex, generalized muscle atrophy, and decreased deep tendon reflexes were detected. Her electromyography revealed small polyphasic muscle unit action potentials, minimal insertional activities, myopathic changes, motor and sensory increased latency, decreased amplitude, reduced velocity, and normal F wave.