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CASE REPORT
PIBIDS syndrome in two Brazilian siblings
  1. Kerstin Taniguchi Abagge1,
  2. Felipe Haupenthal1,
  3. Gabriella Yamashita Felber1 and
  4. Salmo Raskin2
  1. 1 Department of Pediatrics, Universidade Federal do Parana, Curitiba, Brazil
  2. 2 Department of Genetics, Universidade Federal do Parana, Curitiba, Brazil
  1. Correspondence to Professor Kerstin Taniguchi Abagge, kerstinabagge{at}gmail.com

Abstract

Trichothiodystrophy is a rare condition associated with autosomal recessive or X-linked dominant variants in the ERCC2, ERCC3, GTF2H5, MPLKIP, RNF113A or GTF2E2 genes. The genes associated to photosensitive trichothiodystrophy encode subunits of transcription factor IIH, involved in the nucleotide excision repair pathway. The disease is characterised by cysteine-deficient brittle hair along with other neuroectodermal abnormalities. It has a variable clinical expression and some cases might be associated with photosensitivity, resulting in the acronym PIBIDS (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature). We report clinical findings of two siblings diagnosed with trichothiodystrophy associated with marked photosensitivity.

  • dermatology
  • genetic screening / counselling
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Footnotes

  • Patient consent for publication Obtained.

  • Contributors KTA: literature review and writing, revising text. FH: structure of text. GYF: literature review and update. SR: genetic evaluation and testing, review of final text.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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