Trichothiodystrophy

Other names: Tay syndrome, (P)IBIDS - photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility, short stature

OMIM: 601675

OMIM Xeroderma Pigmentosum, Complementation Group C; XPC: 278720

OMIM Sabinas Brittle Hair Syndrome: 211390

OMIM Trichorrhexis Nodosa Syndrome: 275550

OMIM Hartnup Disorder: 234500

Inheritance: autosomal recessive

Incidence: rare

Key findings: brittle, low sulfur hair links several syndromes that may have different causes

  • skin: fine white scale and generalized mild erythema; photosensitivity in some
  • hair: easily fractured, sparse hair
  • nails: nail plates may be abnormally thick or thin

Associated findings: short stature (common)

  • central nervous system: intellectual impairment is usual, but of variable severity; motor development may be impaired and remain permanently deficient
  • eyes: neonatal cataracts and photophobia (common)
  • genitals: decreased fertility (common)

Age at first appearance: birth

Long-term course: hair abnormalities may not be detectable at all times and in all locations; many born with ichthyosiform erythroderma or collodion membrane that generally improve during the first year; normal life-span; overall outlook dependent on which organ systems are involved

Diagnostic tests: chemical and microscopic analysis of hair; analysis of cellular DNA available for some cases

Abnormal Genes: transcription factors ERCC2 or ERCC3 (in some)


 


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