The first reported case of trichothiodystrophy in Hungary: A young male patient with mutations in the ERCC2 gene

Klara Veres, Nikoletta Nagy, Béla Háromszéki, Ágnes Solymosi, Viktoria Vass, Márta Széll, Zsuzsanna Zsófia Szalai

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)169-172
Number of pages4
JournalActa Dermatovenerologica Croatica
Volume26
Issue number2
Publication statusPublished - Jan 1 2018

Keywords

  • Genetic diseases/mechanisms
  • Hair disorders
  • Photosen-sitivity

ASJC Scopus subject areas

  • Dermatology
  • Infectious Diseases

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