Trichothiodystrophy

Trichothiodystrophy (syn. Tay syndrome) is a recessive hereditary disease (the faulty gene is carried by both parents) characterised by sulphur-deficient brittle hair.
It was first described by Dr. Tay Chong Hai in 1971.

The hair deformity may exist with or without other symptoms which may include:
• skin resembling fish scales (ichthyosiform erythroderma).
• light sensitivity (photosensitivity) in 75%+ of reported cases.
• abnormalities of finger-nails and toe-nails onchodystrophy.
• premature aging (progeria-like).
• low level weight gain.

The hair-shaft is brittle - it fractures and severs on emergence from its host follicle. The overall appearance being of short, sparse hair.
Eyebrows and eyelashes may be inculcated. There is currently no treatment for TrichoThioDystrophy.

Examination of the hair reveals that its cross sectional shape is oval. There are also irregularities in its diameter and pigmentation. Its cuticle may present with abnormalities or may be absent.

Where TTD is confirmed, hair samples tested will usually indicate a reduction of approximately 50% of normal levels of sulphur and cysteine.