Uncombable

New insights to a rare condition

"Uncombable" Hair Syndrome (UHS) is a real condition. It's not commonly discussed because it is uncommon. But this week, the condition made headlines.

Children with UHS have difficult to style or "unruly" hair. Children typically affected  have blonde hair and hair  that is extremely frizzy. The ability to style the hair may improve in adulthood, however a few of my patients with UHS have similar hair quality in adulthood as they did in childhood.

Researchers from Germany studied the genetics in 11 children with uncombable hair syndrome. Three genes with a link to UHS were found :

• PADI3 (peptidylarginine deiminase 3,
• TGM3 (transglutaminase 3) and
• TCCH (trichohyalin, a gene for a protein found in the hair shaft)

What was equally new about the research was that the scientists created mice with mutations in PADI3 and TGM3 to see if these mice would have an abnormality in their hair. Much to everyone's surprise, these mice developed fur anomalies just like the human condition.

Reference
Basmanav et al. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am J Human Genetics.