TLDR Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
The document reports on a case of a 5-year-old girl diagnosed with Atrichia with Papular Lesions (APL), a rare and irreversible form of alopecia that manifests shortly after birth and is characterized by a complete loss of hair, keratotic papules, and milia-like cysts. The diagnosis was confirmed through genetic testing, which identified mutations in the hairless gene (HR) located on the zinc finger domain of chromosome 8p12, known to be associated with APL. This case underscores the importance of genetic testing in confirming the diagnosis of APL.
178 citations
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October 2001 in “Genes & Development” The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
26 citations
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July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
30 citations
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May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
