IMPORTANT DRUG INFORMATION

Metronidazole (also known as Flagyl® or Metrolyl®) may cause acute liver failure in patients with Cockayne Syndrome (as yet unknown in Trichothiodystrophy patients) and should be avoided. Please alert your doctors to this.

Any further drug reactions in this patient group should be reported to the regulatory authorities in your own country.

What is Trichothiodystrophy?

Trichothiodystrophy (TTD) is part of a group of ageing diseases, including Cockayne Syndrome. TTD is an autosomal recessive genetic condition. This means that both parents carry a variation on associated genes, ERCC2, ERCC3, or GTF2H5, other associated genes are being studied. Life expectancy for a patient with TTD can occur before the age of 3 or to early adulthood.

TTD is the name for a lack of sulfur-rich proteins in hair and nails. The main feature of this condition is, therefore, to have extremely fragile and dry hair. In addition, patients with TTD often have, but not always, the skin disorder ichthyosis that manifests itself in particular on the trunk and limbs. Ichthyosis is often characterised by dry, thickened, scaly skin. Often, redness and flaking of the skin can be seen from birth, and in severe cases babies are usually born as a collodion baby. Hypersensitivity to all kinds of infections occurs in half of the patients. Other symptoms that may also be found include intellectual decline, sunlight sensitivity, reduced growth, nail and dental disorders, gut and digestion issues (with some patients needing to be fed by a tube). Some patients can develop cataracts. All of these symptoms may occur in different combinations, which in the past led to indications such as BIDS, PBIDS, IBIDS and PIBIDS.

The letters stand for the following characteristics:

– Photosensitivity (sensitivity to light / UV radiation)
– Ichthyosis
– Brittle hair
– Intellectual disability
– Decreased fertility
– Short stature