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

Meet Drew, Madison and Chase

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

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

Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other. Or call the FIRST office at 800.545.3286.

This information is provided as a service to patients and parents of patients who have ichthyosis.  It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents.  Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here.  All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.