TLDR A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
The study identified a TP63 mutation (p.Trp192Arg) in a family with 14 affected members, causing prominent alopecia and mild ectodermal dysplasia. Clinical features included coarse, uncombable hair from birth, progressing to alopecia by age 25, sparse body hair, and minor ectodermal abnormalities such as onychodystrophia, ichthyosis, and hypohidrosis. The mutation, located in the DNA-binding domain of TP63, led to protein instability and malfunction, altering transactivation activity on different TP63 isoforms. These findings expanded the spectrum of TP63-associated clinical manifestations and highlighted the diagnostic complexity of TP63 phenotypes.
33 citations,
February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
4 citations,
August 2005 in “Archives of Dermatological Research” Higher p63 and CD34 levels found in specific scalp areas may affect hair loss progression.
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.
9 citations,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
1 citations,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
43 citations,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
