Definition:
Trichothiodystrophy is a characterization of the recessive hereditary disease Tay syndrome. Trichothiodystrophy means sulfur-deficient brittle hair with photosensitivity, ichthyosiform erythroderma (fish-like scales on skin), dystrophic or abnormal finger and toe nails, progeria-like faces or prematurely aged looking face, growth and mental retardation, infertility, and variable other defects.
Diagnosis:
Physicians usually conduct thorough questioning to patients before diagnosing Trichothiodystrophy. Questions are generally about the skin but mucous membranes on the mouth, lips, and nose are also examined as well as the ears, hair, and nails.
Blood tests can confirm the diagnosis of the disease while a chorionic villus sampling can detect hexosaminidase A deficiency in the fetus.
Treatment:
The disease has no known cure but there are available supportive treatments. Tube feedings of nutritional supplements, suctioning and postural drainage to remove pharyngeal secretions, skin care to prevent pressure ulcers in bedridden children, and mild laxatives to relieve neurogenic constipation are among the supportive treatments available to affected individuals.
Symptoms and Signs:
There are quite a number of symptoms for the disease but the most common are fine, dark skin scales, retarded growth, mental retardation, and lack of subcutaneous fat. The less common symptoms include small cataracts, bone abnormalities, and teeth abnormalities.
Causes:
Trichothiodystrophy is a hereditary disorder.
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