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Trichothiodystrophy

Hereditary disorder characterized by brittle hair (trichothiodystrophy), which may be accompanied by photosensitivity, ichthyosis, intellectual impairment, decreased fertility, and short stature (PIBIDS).

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 becomes available, we will provide updates.

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

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 visual loss
Eyes
Neonatal cataracts and photophobia (common)
Genitals
Decreased fertility (common)