|Classification and external resources
Trichothiodystrophy (TTD), also known as IBIDS syndrome, photosynthetic trichthiodystrophy (TTDP), trichothiodystrophy with congenital ichthyosis, Tay syndrome or sulfur-deficient brittle hair syndrome,:485 was first described by Tay in 1971. It is an autosomal recessive congenital skin disease characterized by a congenital ichthyosiform erythroderma, growth and mental retardation, progeria-like faces, and brittle hair. The association of ichthyosis, brittle hair, intellectual impairment, decreased fertility, and short stature has been given the acronym IBIDS syndrome. In some cases, it can be diagnosed prenatally.
It is associated with ERCC2 and ERCC3.
It is named after Dr. Tay Chong Hai, a Singaporean doctor who discovered and subsequently published a paper on it in 1971. Dr. Tay is the first doctor in South East Asia to be honored by having a disease named after him. Tay syndrome should not be confused with the Tay-Sachs disease.
See also 
- ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 601675
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ a b c Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 501. ISBN 0-07-138076-0.
- ^ Stefanini M, B. E.; Botta, E.; Lanzafame, M.; Orioli, D. (January 2010). "Trichothiodystrophy: from basic mechanisms to clinical implications". DNA Repair 9 (1): 2–10. doi:10.1016/j.dnarep.2009.10.005. PMID 19931493.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 575. ISBN 0-7216-2921-0.
- ^ Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG (Dec 2007). "Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk". Prenat. Diagn. 27 (12): 1133–1137. doi:10.1002/pd.1849. PMID 17880036.
- ^ Tay CH (1971). "Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder". Arch Dermatol 104 (1): 4–13. doi:10.1001/archderm.104.1.4. PMID 5120162.
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