| Rothmund-Thomson syndrome | |
|---|---|
| Classification and external resources | |
| ICD-10 | Q82.8 (ILDS Q82.852) |
| ICD-9 | 757.33 |
| OMIM | 268400 |
| DiseasesDB | 29891 |
| eMedicine | derm/379 |
| MeSH | D011038 |
Rothmund–Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma congenitale,[1][2] is a rare autosomal recessive[3][4] skin condition originally described by August von Rothmund (1830–1906) in 1868. Matthew Sydney Thomson (1894–1969) published further descriptions in 1936.
There have been several reported cases associated with osteosarcoma. A hereditary genetic basis, mutations in the DNA Helicase RECQL4 gene, has been implicated in the syndrome.[1][5][6]
Contents |
The skin is normal at birth. Between 3 to 6 moths of age, the affected carrier develops poikiloderma on the cheeks. This characteristic “rash” that all RTS carriers have can develop on the arms, legs and buttocks. “Poikiloderma consists of areas of increased ans decreased pigmentation, prominent blood vessels, and thinning of the skin”[8]
RTS is caused by a mutation of the RECQL4 gene, located at chromosome 8q24.3.[5][9] The disorder is inherited in an autosomal recessive manner.[3] This means the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
|
||||||||||||||||||||||