Trichothodystrophy or TTD is a rare genetic disease, which is why it is considered a rare disease. The main manifestations are abnormalities in the hair, delayed physical and mental development, ichthyosis, signs of premature aging, abnormalities in the nails and skin photosensitivity.
It is caused by a failure in the metabolism of amino acids, specifically in the synthesis of cystine. It is a disease of genetic origin, determined by a mutation in a gene, is inherited in an autosomal recessive pattern.
In microscopy, with an optical microscope the trichothiodistrophic hair is flattened, with freckles or bands, of irregular surface and with transverse fractures; with polarized light it has a brindle look.
It is estimated that there are approximately 200 people in the world with this disease.
There is no cure for this pathology, but symptoms are usually treated.
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