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Cutis marmorata telangiectatica congenita
| Cutis marmorata telangiectatica congenita | |
|---|---|
| Other names | Van Lohuizen syndrome |
 | |
| Cutis marmorata telangiectatica congenital is inherited in an autosomal recessive manner[1] | |
| Specialty | Dermatology  |
Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The condition was first recognized and described in 1922 by Cato van Lohuizen,[2] a Dutch pediatrician whose name was later adopted in the other common name used to describe the condition – Van Lohuizen syndrome. CMTC is also used synonymously with congenital generalized phlebectasia, nevus vascularis reticularis, congenital phlebectasia, livedo telangiectatica, congenital livedo reticularis and Van Lohuizen syndrome.[3]
It should not be confused with the more general term "cutis marmorata", which refers to livedo reticularis caused by cold.[4]
For a full and up-to-date description visit the CMTC webpages of the global non-profit patient organisation for people with CMTC and other vascular malformation CMTC-OVM: www.cmtc.nl/en
- ^ McKusick, Victor A. "Entry - 219250 - CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC - OMIM". omim.org. Retrieved 10 July 2017.
- ^ Van Lohuizen, Cato H. F. (1922). "Über eine seltene angeborene Hautanomalie (Cutis marmorata telangiectatica congenita)" [About a rare congenital skin anomaly]. Acta Dermato-venereologica (in German). 3: 202–211.
- ^ Gerritsen, M.J.P.; Steijlen, P.M.; Brunner, H.G.; Rieu, P. (February 2000). "Cutis marmorata telangiectatica congenita: report of 18 cases: CUTIS MARMORATA TELANGIECTATICA CONGENITA". British Journal of Dermatology. 142 (2): 366–369. doi:10.1046/j.1365-2133.2000.03311.x. PMID 10730777.
- ^ "cutis marmorata" at Dorland's Medical Dictionary
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