Stručni rad
The first reported case of trichothiodystrophy in Hungary: A young male patient with mutations in the ERCC2 gene
Klára Veres
; Department of Pediatric Dermatology of Heim Pál Children’s Hospital, Budapest, Hungary
Nikoletta Nagy
; University of Szeged Department of Medical Genetics, Szeged, Hungary
Béla Háromszéki
; Department of Pediatric Dermatology of Heim Pál Children’s Hospital, Budapest, Hungary
Ágnes Solymosi
; Department of Pediatric Dermatology of Heim Pál Children’s Hospital, Budapest, Hungary
Viktória Vass
; Department of Pathology of Heim Pál Children’s Hospital, Budapest, Hungary
Márta Széll
; University of Szeged Department of Medical Genetics, Szeged, Hungary
Zsuzsanna Zsofia Szalai
; Department of Pediatric Dermatology of Heim Pál Children’s Hospital, Budapest, Hungary
Sažetak
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 trichotiodystrophy. 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.
Ključne riječi
Hair disorders; Genetic diseases/mechanisms; Photosensitivity
Hrčak ID:
203224
URI
Datum izdavanja:
5.7.2018.
Posjeta: 839 *