PIBIDS syndrome in two Brazilian siblings.

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.

• Authors: Kerstin Taniguchi Abagge, Felipe Haupenthal, Gabriella Yamashita Felber, Salmo Raskin
• Journal: BMJ case reports (BMJ Case Rep) Vol. 11 Issue 1 (Dec 22 2018) ISSN: 1757-790X [Electronic] England
• PMID: 30580289 (Publication Type: Case Reports, Journal Article)
• Copyright: © BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ.

Chemical References

• Adaptor Proteins, Signal Transducing
• DNA-Binding Proteins
• GTF2H5 protein, human
• MPLKIP protein, human
• RNF113A protein, human
• Transcription Factors
• Transcription Factors, TFII
• XPBC-ERCC-3 protein
• DNA Helicases
• Xeroderma Pigmentosum Group D Protein
• transcription factor TFIIF
• ERCC2 protein, human

Topics

• Adaptor Proteins, Signal Transducing (genetics)
• Brazil
• DNA Helicases (genetics)
• DNA-Binding Proteins (genetics)
• Female
• Humans
• Male
• Siblings
• Transcription Factors (genetics)
• Transcription Factors, TFII (genetics)
• Trichothiodystrophy Syndromes (genetics)
• Xeroderma Pigmentosum Group D Protein (genetics)
• Young Adult