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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
- 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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