Uncombable Hair Syndrome (UHS) is a genetic disorder affecting the hair shaft.
Synonyms: spun glass hair syndrome, pili trianguli et canaliculi
Inheritance: autosomal recessive with some families showing pseudodominance
Genes affected: PADI3, TCHH, TGM3
The mutations result in abnormal hair shaft proteins, which cause the hair shaft to be abnormal.
During childhood the patient’s hair:
(1) is dry, frizzy, shiny or wiry
(2) is often light-colored
(3) sticks straight out and is hard to comb flat
These changes tend to become less noticeable as the person gets older.
The condition may occur as an isolated finding, or it may be associated with other clinical findings such as ectodermal dysplasia.
