A Novel PLEC Nonsense Homozygous Mutation (c.7159G > T; p.Glu2387*) Causes Epidermolysis Bullosa Simplex with Muscular Dystrophy and Diffuse Alopecia: A Case Report
January 2018
in “
BMC dermatology
”
TLDR A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
This case report described a 28-year-old female with epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) and diffuse alopecia, identifying a novel homozygous nonsense mutation in the PLEC gene (c.7159G > T; p.Glu2387*). The patient exhibited skin blistering from birth, progressive muscle weakness, and non-scarring alopecia. The mutation likely caused a lack of full-length plectin, contributing to the disease phenotype. This case was only the second reported instance of EBS-MD with diffuse alopecia, suggesting a potential link between PLEC exon 31 mutations and alopecia, though environmental factors could also play a role.
