By Gary M. White, MD
Trichothiodystrophy (TTD) is an autosomal-recessive genodermatosis with a wide variety of presentations. The unifying theme, however, is brittle and sulfur-deficient hair. The hair characteristically shows alternating light and dark bands under polarizing light (“tiger tail” banding which is diagnostic). Various ectodermal and neuroectodermal syndromes related to trichothiodystrophy have been described including IBIDS, PIBIDS, and Tay syndrome.
- Onset is in infancy.
- Many TTD patients are born prematurely or are small for their gestational age.
- There is a high frequency of congenital cataracts and of multiple infections.
- These patients may have skeletal abnormalities, including peripheral osteopenia and central osteosclerosis.
- Neurologic manifestations include developmental defects, microcephaly, intellectual impairment, and ataxia.
- Decreased fertility and features of premature aging may be observed.
- Other features include impaired intelligence, short stature, and a bird-like facies.
- The term TTD is often used synonymously with the acronym (P)IBIDS, a form of TTD that includes a spectrum of clinical features including photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility, and short stature.
The hair is brittle. Approximately half of TTD patients demonstrate an exaggerated response to ultraviolet radiation, resulting in severe sunburns after minimal exposure. In contrast to xeroderma pigmentosum, patients with TTD do not show the increased freckle-like pigmentation and the high frequency of light-induced skin cancer. Nail abnormalities, such as onychodystrophy, splitting, ridging, or thickening may occur. An ichthyosis may occur.
JAAD August 2010 Volume 63, Issue 2, Pages 323–328
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