What is TTD syndrome?

Trichothiodystrophy (TTD) is a rare inherited, genetic disease characterized a broad spectrum of abnormalities. Patients with different manifestations are linked together by the common feature of short, dry, brittle, sulfur-deficient hair which has a characteristic tiger tail pattern under polarizing microscopy.

Can Trichothiodystrophy be cured?

Given there is no cure for trichothiodystrophy, treatment is based around managing clinical manifestations, symptoms, and complications. Patients who are photosensitive should be provided with sun protection advice. Infections should be treated early and aggressively [1].

What type of mutation is Trichothiodystrophy?

Trichothiodystrophy (TTD) is an autosomal recessive neuroectodermal disorder caused by several functionally related gene defects that lead to clinical findings of fragile hair, thinning and longitudinal ridging of the nails, and additional cutaneous findings such as photosensitivity, ichthyosis, erythroderma, or …

Who discovered Trichothiodystrophy?

Trichothiodystrophy (TTD) was first described by Davies in 1968 as a rare autosomal syndrome in which patients exhibited sulfur-deficient brittle hair, scaly skin and mental, physical retardation, and in about 50% of the cases photosensitivity, without an elevation in skin cancer (Cleaver et al., 2009; Pollitt et al..

What causes brittle hair syndrome?

Genetics: Sequence mutations in the C7ORF11 (TTDN1) gene located on chromosome 7 (7p14) have been identified in Amish patients. This is an autosomal recessive disease.

Can vitamins cause sun sensitivity?

Brighteners like vitamin C may decrease the melanin in your skin, which acts as a natural defense against the sun’s rays. These may cause photosensitivity and increase your chances of damage from UV exposure. Being diligent about sun protection is crucial while using these products.