Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into tricho-hair; thio-sulphur and dystrophy-wasting away, literally bad nourishment. TTD is associated with a range of symptoms connected with organs of the ectoderm and neuroectoderm.TTD may be subclassified into four syndromes: Approximately half of all patients with Trichothiodystrophy have photosensitivity which divides the classification into syndromes with or without photosensitivity; BIDS and PBIDS, and IBIDS and PIBIDS. Modern covering usage is TTD-P (photosensitive), and TTD.
Features of TTD can include: Photosensitivity, Icthyosis, Brittle hair and nails, Intellectual impairment, Decreased fertility and Short stature. The acronyms PIBIDS, IBIDS, BIDS and PBIDS give the initials of the words involved. BIDS syndrome, also called Amish brittle hair brain syndrome and hair-brain syndrome, is an autosomalrecessive inherited disease . It is nonphotosensitive. BIDS is characterized by brittle hair, intellectual impairment, decreased fertility, and short stature.:501 There is a photosensitive syndrome, PBIDS.
BIDS is associated with the gene MPLKIP (TTDN1).
IBIDS syndrome, following the acronym, Ichthyosis, Brittle hair and nails, Intellectual impairment and Short stature, which is the Tay syndrome or sulfur-deficient brittle hair syndrome, first described by Dr Tay in 1971. (Dr Chong Hai Tay was the Singaporean doctor who was the first doctor in South East Asia to have a disease named after him). Tay syndrome should not be confused with the Tay-Sachs disease. :485 It is an autosomalrecessivecongenital disease. In some cases, it can be diagnosed prenatally. IBIDS syndrome is nonphotosensitive.
The photosensitive form is referred to as PIBIDS, and is associated with ERCC2 and ERCC3.
All photosensitive TTD syndromes have defects in their NER systems. NER stands for nucleotide excision repair which is a vital DNA repair system that removes many kinds of DNA lesions. This defect is not present in the nonphotosensitive TTD's. NER defects can result in other rare autosomal recessive diseases like Xeroderma pigmentosum and Cockayne syndrome.
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