Epidermolysis Bullosa Pruriginosa, Muscular Dystrophy, and Immune-Mediated Myasthenia Gravis in a Patient With Homozygous Nonsense PLEC Mutation
TLDR A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
A 26-year-old female with a history of epidermolysis bullosa pruriginosa (EBP) since infancy, hair loss, and various neurological symptoms was diagnosed with myasthenia gravis (MG) and muscular dystrophy. Neurological examination and electromyography supported these diagnoses, with findings such as bilateral ptosis, generalized muscle atrophy, and decreased deep tendon reflexes. Elevated acetylcholine receptor antibody levels (2.36 nmol/L) and a high serum creatine phosphokinase titer (422 IU/L) further confirmed the presence of MG and muscular dystrophy, respectively. Whole-exome sequencing revealed a homozygous PLEC mutation, and muscle biopsy showed chronic atrophic changes and severe endomysial fibrosis, indicative of muscular dystrophy. Treatment with steroids significantly improved her swallowing, skin lesions, and ptosis, and reduced her MG composite scale from 22 to 12. The combination of muscular dystrophy, immune-based MG, and EBP in this patient represents novel findings.
