Trichothiodystrophy

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Trichothiodystrophy: A Patient's Perspective: A Clinical Perspective

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What is Trichothiodystrophy?

Trichothiodystrophy is a hereditary disorder characterized by brittle hair, which may be accompanied by a variety of other manifestations. It is sometimes called PIBIDS, a term that refers to the association of Photosensitivity Ichthyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature. Without photosensitivity the condition has been termed IBIDS, and without ichthyosis, BIDS. Many patients have recurrent infections, and abnormalities of the bone and teeth may also occur.

As more information for our “Patient Perspective” section of Trichothiodystrophy becomes available, we will provide updates. Please refer to a Clinician’s Perspective for Trichothiodystrophy syndrome.

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Other Names:	Tay syndrome, (P)IBIDS - photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility, short stature
OMIM:	601675
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
Longterm 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 Gene:	transcription factors ERCC2 or ERCC3 (in some)

Additional Resources:

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 Support Services - connecting affected individuals and families with each other. Or call the FIRST office at 800-545-3286. »
Information about current clinical trials and research studies can be found here.
Additional OMIM links: 278720, 211390, 275550, 234500

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.

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