Trichothiodystrophy: a case report of childhood glaucoma associated with
                        non-acquired systemic disease

Silva, Diana Silveira; Almeida, Izabela; Netto, Camila; Esporcatte, Bruno L. B.; Rolim-de-Moura, Christiane

doi:10.5935/0004-2749.20180101

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2018

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“…The incidence of the photosensitive form of TTD has been recently estimated at 1.2 per million live births in Western Europe 10. In Brazil, some cases of CS and XP have been previously described, in addition to two recently reported cases of patients with TTD associated with photosensitivity 11–13. The two patients here reported are the first PIBIDS cases in siblings in this country.…”

Section: Discussionmentioning

confidence: 52%

PIBIDS syndrome in two Brazilian siblings

Abagge¹,

Haupenthal

Felber

et al. 2018

BMJ Case Rep

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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.

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Section: Discussionmentioning

confidence: 52%