IBIDS syndrome

IBIDS syndrome
Classification and external resources
OMIM 601675

IBIDS syndrome, also known as trichothiodystrophy (TTD), photosynthetic trichthiodystrophy (TTDP), trichothiodystrophy with congenital ichthyosis, Tay syndrome or sulfur-deficient brittle hair syndrome,[1][2][3]:485 was first described by Tay in 1971. It is an autosomal recessive[4] congenital skin disease[5] characterized by a congenital ichthyosiform erythroderma, growth and mental retardation, progeria-like facies, and brittle hair.[3] The association of ichthyosis, brittle hair, intellectual impairment, decreased fertility, and short stature has been given the acronym IBIDS syndrome.[3] In some cases, it can be diagnosed prenatally.[6]

It is associated with ERCC2 and ERCC3.[1]

Contents

Eponym

It is named after Dr. Tay Chong Hai, a Singaporean doctor who discovered and subsequently published a paper on it in 1971.[7] 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

References

  1. ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 601675
  2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  3. ^ a b c Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 501. ISBN 0071380760. 
  4. ^ 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.  edit
  5. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 575. ISBN 0721629210. 
  6. ^ 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. 
  7. ^ 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. 

External links

Congenital malformations and deformations of skin appendages (Q84, 757.4–757.5)
Nail disease
Hair disease

M: SKA

anat/phys/devp

noco/cong/tumr, sysi/epon

proc, drug(D10)
DNA replication
DNA repair
Other
see also DNA replication, DNA repair
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk