Trichothiodystrophy is a rare, multisystem disorder caused by the inheritance of abnormal genes. There are numerous syndromes within Trichothiodystrophy, primarily affecting the organs. The shared characteristic between each of these syndromes is the occurrence of brittle and fragile hair.
Frequency
Trichothiodystrophy is estimated to occur in one out of every one million newborns between the United States and Europe. There have been approximately one hundred individual cases reported worldwide.
Causes
The cause of Trichothiodystrophy is the mutation of genes. These mutations result from autosomal recessive inheritance. If I were to have this disorder, it would mean that both of my parents were carriers of the mutated gene.
Signs & Symptoms
Symptoms can begin before birth. Some initial signs include pre-eclampsia, elevated liver enzymes, premature labor and placental abnormalities. The most common symptoms are seen in the skin, hair and nails.
Some individuals suffer from photosensitivity, a sensitivity to UV rays like those produced by the sun. Others will have chronic itching and scaly skin. Additionally, there are cases of abnormal growth patterns, chronic infection, and ocular abnormalities.
Other Names
Other names for Trichothiodystrophy include:
- Amish Brittle Hair Syndrome
- BIDS Syndrome
- IBIDS
- PIBIDS
- TTD
Affected Populations
All variations of Trichothiodystrophy are present at birth, affecting both males and females. There is no difference in rates between genders or ethnicities.
Treatment
In order for Trichothiodystrophy to be treated appropriately, you must take a multidisciplinary approach. Which interventions are needed will depend on which symptoms are present. Most cases require physical therapy, neurology consultations, and frequent dermatology exams.
