10 Uncombable Hair Syndrome FAQs
Article Sources
- 1. ’Uncombable hair syndrome.’ MedlinePlus. https://medlineplus.gov/genetics/condition/uncombable-hair-syndrome
- 2. Uncombable hair syndrome.’ National Institutes of Health. https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome
- 3. ’Bork Stender Schmidt syndrome.’ National Institutes of Health. https://rarediseases.info.nih.gov/diseases/938/bork-stender-schmidt-syndrome
- 4. Hicks J; Metry DW; Barrish J; Levy M. ‘Uncombable hair (Cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis.’ Ultrastructural Pathology 2001 https://pubmed.ncbi.nlm.nih.gov/11407534
What Causes Uncombable Hair Syndrome?
The condition is caused by a mutation among PADI3, TGM3 or TCHH genes that instruct the body to make proteins, giving hair strands their structure. Where the genetic mutation isn't found, the cause is unknown. Uncombable hair syndrome may also be associated with other genetic conditions involving other genes.
The genetic mutations may skip generations or only appear in one person. Hair shaft abnormalities may be seen in unaffected family members when the hair is viewed under a special microscope. The mutations cause the hair shafts to form abnormal shapes, which give the hair a glistening effect when light shines on it.2Uncombable hair syndrome.’ National Institutes of Health. https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome
