Rothmund-Thomson syndrome

Rothmund-Thomson syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 29891
ICD10 =
ICD9 = ICD9|757.33
ICDO =
OMIM = 268400
MedlinePlus =
eMedicineSubj = derm
eMedicineTopic = 379
MeshID = D011038

Rothmund-Thomson Syndrome is a rare autosomal recessive [cite journal |author=Raza N, Malik QU, Hussain Z |title=Rothmund-Thomson syndrome: more than just a cosmetic concern |journal=J Coll Physicians Surg Pak. |volume=17 |issue=7 |pages=423–4 |year=2007 |pmid=17686357 |doi=07.2007/JCPSP.423424 ] 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. [OMIM|268400] [cite journal |author=Hicks MJ, Roth JR, Kozinetz CA, Wang LL |title=Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome |journal=J. Clin. Oncol. |volume=25 |issue=4 |pages=370–5 |year=2007 |pmid=17264332 |doi=10.1200/JCO.2006.08.4558 |url=]

Key features

*Abnormal rash termed poikiloderma skin pigmentation
*Telangiectasia
*Juvenile cataracts
*Saddle nose
*Congenital bone defects, particularly radial ray anomalies and short stature
*Hair growth problems (absent eyelashes, eyebrows and/or hair)
*Hypogonadism has not been well documented
*Hypodontia
* Calcium problems (not documented in journals)
* Ear problems (not documented in journals but identified by patients in support groups)
*Osteosarcoma [cite journal |author=Wang LL, Levy ML, Lewis RA, "et al" |title=Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients |journal=Am. J. Med. Genet. |volume=102 |issue=1 |pages=11–7 |year=2001 |pmid=11471165 |doi=10.1002/1096-8628(20010722)102:1<11::AID-AJMG1413>3.0.CO;2-A |url=]

References

External Links

*RareDiseases|4392|Poikiloderma of Rothmund-Thomson

External links

* http://www.rtsplace.org - For user based information and "
* http://www.riastrust.org - UK site
* http://www.youtube.com/watch?v=DGi7pHR1Ypk video
* http://news.bbc.co.uk/player/nol/newsid_7040000/newsid_7042000/7042093.stm?bw=bb&mp=wm&news=1&ms3=6 tv link


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Look at other dictionaries:

  • Rothmund-Thomson syndrome (RTS) — An hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with stunting of growth, baldness, cataracts, depressed nasal bridge, and malformations of the teeth, nails and… …   Medical dictionary

  • Rothmund-Thomson syndrome — Roth·mund Thom·son syndrome (rotґmoond tomґson) [August von Rothmund, Jr., German physician, 1830–1906; Mathew Sidney Thomson, English dermatologist, 1894–1969] see under syndrome …   Medical dictionary

  • Rothmund-Thomson syndrome — an autosomal recessive syndrome characterized by reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often with juvenile cataracts, saddle nose, congenital bone defects, disturbances in growth of hair, nails, and teeth, and… …   Medical dictionary

  • RTS (Rothmund-Thomson syndrome) — An hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with stunting of growth, baldness, cataracts, depressed nasal bridge, and malformations of the teeth, nails and… …   Medical dictionary

  • Syndrome de rothmund-thomson — Autre nom Poïkilodermie de Rothmund Thomson Référence MIM …   Wikipédia en Français

  • Syndrome de Rothmund-Thomson — Référence MIM 268400 Transmission Récessive Chromosome 8q24.3 Gène RECQL4 Empreinte parentale Non …   Wikipédia en Français

  • Rothmund-Thomson-Syndrom — Klassifikation nach ICD 10 Q82.8 Sonstige näher bezeichnete angeborene Fehlbildungen der Haut …   Deutsch Wikipedia

  • Syndrome, Rothmund-Thomson — An hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with stunting of growth, baldness, cataracts, depressed nasal bridge, and malformations of the teeth, nails and… …   Medical dictionary

  • síndrome de Rothmund-Thomson — Eng. Rothmund Thomson syndrome Ver catarata juvenil con poiquilodermia congénita …   Diccionario de oftalmología

  • Thomson disease — an autosomal recessive skin disorder similar to Rothmund Thomson syndrome except that saddle nose and cataract are not manifestations …   Medical dictionary

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