IBIDS syndrome (also known as "Sulfur-deficient brittle hair syndrome,"[1] "Trichothiodystrophy," "Tay's syndrome"[2]:485, and "Trichothiodystrophy with ichthyosis"[1]) was first described by Tay in 1971, an autosomal recessive disorder[3]:575 characterized by a congential ichthyosiform erythroderma, growth and mental retardation, progeria-like facies, and brittle hair.[2]:501 The association of ichthyosis, brittle hair, intellectual impairment, decreased fertility, and short stature has been given the acronym IBIDS syndrome.[2]:501 In some cases, it can be diagnosed prenatally.[4]
Contents |
Eponym
It is named after Dr. Tay Chong Hai, a Singaporean doctor who discovered and subsequently published a paper on it in 1971.[5] 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.[citation needed]
See also
External links
References
- ^ a b 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. ISBN 0071380760.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
- ^ Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG (December 2007). "Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk". Prenat. Diagn. 27 (12): 1133–7. doi:. PMID 17880036. http://dx.doi.org/10.1002/pd.1849.
- ^ Tay CH (1971). "Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder". Arch Dermatol 104 (1): 4–13. doi:. PMID 5120162.
| This Genodermatoses article is a stub. You can help Wikipedia by expanding it. |
This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see full disclaimer)




