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April 2019 in “JAAD case reports” JAK inhibitors helped treat hair loss in two people with Down syndrome.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
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January 2021 in “Indian Journal of Critical Care Medicine” Testing for the NUDT 15 variant is crucial before starting azathioprine, especially in Asians.
December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
February 1989 in “PubMed” A genetic hair protein variant is more common in Japanese people and is inherited.
8 citations
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September 2016 in “Pediatric dermatology” People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
81 citations
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February 2014 in “EMBO molecular medicine” Activating Nrf2 in skin cells causes skin disease similar to chloracne in mice.
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August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” A rare lupus case on the chin was successfully treated with steroids and immunomodulators after accurate diagnosis using advanced imaging techniques.