IBIDS syndrome, also known as trichothiodystrophy (TTD), photosynthetic trichthiodystrophy (TTDP), trichothiodystrophy with congenital ichthyosis, Tay syndrome or sulfur-deficient brittle hair syndrome, was first described by Tay in 1971. It is an autosomal

Autosome

An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...

 recessive congenital

Congenital disorder

A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...

 skin disease characterized by a congenital ichthyosiform erythroderma, growth and mental retardation

Mental retardation

Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...

, progeria-like facies, and brittle hair. The association of ichthyosis

Ichthyosis

Ichthyosis is a heterogeneous family of at least 28, generalized, mostly genetic skin disorders. All types of ichthyosis have dry, thickened, scaly or flaky skin...

, 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

ERCC2

ERCC2, or XPD is a protein involved in transcription-coupled nucleotide excision repair.The XPD gene encodes for a 2.3-kb mRNA containing 22 exons and 21 introns. The XPD protein is a 760 amino acids polypeptide with a size of 87kDa...

 and ERCC3.

Eponym

It is named after Dr. Tay Chong Hai, a Singapore

Singapore

Singapore , officially the Republic of Singapore, is a Southeast Asian city-state off the southern tip of the Malay Peninsula, north of the equator. An island country made up of 63 islands, it is separated from Malaysia by the Straits of Johor to its north and from Indonesia's Riau Islands by the...

an 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

Tay-Sachs disease

Tay–Sachs disease is an autosomal recessive genetic disorder...

.

See also

• BIDS syndrome
  BIDS syndrome
  BIDS syndrome, also called nonphotosensitive trichothiodystrophy 1 , Amish brittle hair brain syndrome and hair-brain syndrome, is an autosomal recessive genodermatosis similar to IBIDS syndrome but without the ichthyosiform changes...
  
  
• PIBI(D)S syndrome
  PIBI(D)S syndrome
  PIBIS syndrome is similar to BIDS syndrome, but also associated with photosensitivity, and in contrast to IBIDS syndrome, the ichthyosis is mild and not congential...
  
  
• Skin lesion
• List of cutaneous conditions

External links

• NIH document on Tay syndrome