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Trichothiodystrophy: A Patient's Perspective: A Clinical Perspective
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|
|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)|
- 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. »
- Additional OMIM links: 278720, 211390, 275550, 234500