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Skin and Connective Tissue Diseases Commons

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Thomas Jefferson University

2023

COL VI-related myopathies

Articles 1 - 1 of 1

Full-Text Articles in Skin and Connective Tissue Diseases

Alopecia In Patients With Collagen Vi-Related Myopathies: A Novel/Unrecognized Scalp Phenotype, Michela Starace, Francesca Pampaloni, Francesca Bruni, Federico Quadrelli, Stephano Cedirian, Carlotta Baraldi, Cosimo Misciali, Alberto Di Martino, Patrizia Sabatelli, Luciano Merlini, Bianca Maria Piraccini Apr 2023

Alopecia In Patients With Collagen Vi-Related Myopathies: A Novel/Unrecognized Scalp Phenotype, Michela Starace, Francesca Pampaloni, Francesca Bruni, Federico Quadrelli, Stephano Cedirian, Carlotta Baraldi, Cosimo Misciali, Alberto Di Martino, Patrizia Sabatelli, Luciano Merlini, Bianca Maria Piraccini

Department of Dermatology and Cutaneous Biology Faculty Papers

Collagen VI-related myopathies are characterized by severe muscle involvement and skin involvement (keratosis pilaris and impaired healing with the development of abnormal scars, especially keloids). Scalp involvement and hair loss have not been reported among cutaneous changes associated with collagen VI mutations. The aim of this study is to describe the clinical, trichoscopic, and histological findings of the scalp changes in patients affected by COL VI mutations and to estimate their prevalence. Patients with Ullrich congenital muscular dystrophy were enrolled and underwent clinical and trichoscopic examinations and a scalp biopsy for histopathology. Five patients were enrolled, and all complained of …