A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
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.
