49 citations
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August 1999 in “Journal of Investigative Dermatology” In this study, transgenic mice expressing Msx-2 developed flaky skin with hyperproliferation and misalignment in epidermal cells, suggesting Msx-2 plays a role in skin and appendage growth control.
17 citations
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October 2001 in “Veterinary dermatology” This case report indicates that epidermal dysplasia in two West Highland White Terriers might be caused by a reaction to Malassezia infection or self-trauma, rather than being congenital.
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.
10 citations
,
April 2009 in “Oncology Reports” This study found distinct skin surface changes, including faint mosaic melanoderma and atypical scaliness, on long-standing sun-exposed balding scalps that may be associated with actinic field carcinogenesis.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.