July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” 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.
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January 2018 in “BMC dermatology” 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.
April 2023 in “Journal of Investigative Dermatology” This study found that alopecia areata patients have higher odds of certain comorbidities like ulcerative colitis and vitiligo, while showing lower odds for conditions like hypertension and type 2 diabetes compared to healthy controls.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.
November 2022 in “Journal of Investigative Dermatology” 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.