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

Associated findings: short stature (common)

Age at first appearance: birth

Meet Drew, Madison and Chase

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)


Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other.

Clinicians seeking diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis



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