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This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.

This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.

This review discusses the pathogenesis and clinical presentations of alopecia in epidermolysis bullosa patients, noting diverse hair abnormalities and emphasizing the lack of a consensus on its natural history.

In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.

In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.