12 citations
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January 2013 in “Indian dermatology online journal” This case report presents a patient with woolly hair and associated symptoms, including keratosis pilaris, nail dystrophy, increased interdental spaces, and recurrent bullous impetigo, observing a combination not previously reported.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
2 citations
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July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
31 citations
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August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
March 2024 in “Residência Pediátrica” This case report describes an infant with mucopolysaccharidosis type II who developed generalized hypertrichosis after receiving a bone marrow transplant and cyclosporine, highlighting the medication's potential role in exacerbating excessive hair growth and reviewing hypertrichosis causes.