- 期刊
- OpenAccess
A case of uncombable hair syndrome and global developmental delays
摘要
Introduction: Uncombable hair syndrome, also known as spun-glass hair and pili trianguli et canaliculi, is a rare genetic disorder where a structural anomaly of the hair shaft causes silvery-blonde, disorganized and unruly hair. The hair is usually normal in infancy, becomes uncombable during the first year of life, and improves during puberty or later in life. All scalp hair is affected. However, other body hair is unaffected. Uncombable hair syndrome is usually isolated and not typically associated with developmental delays or disorders of other organs. Autosomal dominant and sporadic inheritance patterns have been reported. A genetic mutation or causal gene has not been identified. Case Report: We report a case of 17-month-old girl with uncombable hair and global developmental delays. She was born with straight brown hair, However by four months of age her hair became silvery, stiff, and unruly. Extensive evaluation by specialists failed to identify a reason for her developmental delays. Both parents were healthy and had normal hair. The maternal grandmother had blonde, coarse and slightly unruly hair that was worse when she was younger and improved during puberty. Microscopic hair evaluation of the child's hair showed triangular cross sections (pili trianguli) and longitudinal canal-like grooves (pili canaliculi) confirming the diagnosis of uncombable hair syndrome. Conclusion: Uncombable hair syndrome is a rare genetic disorder that must be suspected clinically. Scanning electron microscopy can confirm the diagnosis, differentiate uncombable hair syndrome from other hair shaft anomalies and accurately determine the inheritance pattern within a family.