Trichothiodystrophy, also called sulphur-deficient brittle hair syndrome, is a rare autosomal recessive genetic disorder of DNA repair and transcription. Trichothiodysthrophy is characterised by dry, thin, easily broken hair, showing alternating light and dark pattern called ‘tiger tail’ banding under polarizing light microscopy. According to our knowledge, our report is the first one on this rare disorder from Hungary: a case of a 9-year-old boy showing clinical features typical of trichotio-dystrophy. Sequence analysis of the ERCC2 gene identified two recurrent trichothidodystrophy missense heterozygous mutations – c.934G/ A p.Asp312Asn (CM015299) and c.2251A/C p.Lys751Gln (CM004814) – suggesting compound heterozygous state of the patient and confirming the clinically suspected diagnosis of trichothiodystrophy.
|Number of pages||4|
|Journal||Acta Dermatovenerologica Croatica|
|Publication status||Published - Jan 1 2018|
- Genetic diseases/mechanisms
- Hair disorders
ASJC Scopus subject areas
- Infectious Diseases