Cutis Marmorata Telangiectatica Congenita

Alternative Names

  • CMTC
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

219250

Mode of Inheritance

Autosomal recessive

Description

Cutis marmorata telangiectatica congenita is a benign congenital vascular anomaly characterised by persistent cutis marmorata, telangiectasia, and phlebectasia and often associated with skin atrophy and ulceration. The cutaneous lesions commonly occur on the legs, arms, and trunk and rarely involve the face and scalp. Associated abnormalities such as body asymmetry, vascular and neurological anomalies, glaucoma, macrocephaly, and psychomotor retardation occur in many patients. The diagnosis is mainly clinical, and prognosis is generally good, with cutaneous lesions improving during infancy. There is no specific treatment, and long term follow up is indicated with associated abnormalities.

Fewer than 300 cases of CMTC had been reported in the world literature; many such cases occur sporadically and very rare cases are familial.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
219250.1Saudi ArabiaMaleYes Abnormal facial shape; Glaucoma; Macroce...NM_152522.7:c.192G>AHomozygousAutosomal, RecessiveAbumansour et al. 2015 This patient has ano...

Other Reports

Oman

Manikoth et al. (2005) described a baby boy born to non-consanguineous parents with skin lesions of generalized persistent cutis marmorata, dilated superficial veins, and telangiectasia involving the limbs, trunk, and scalp. The lesions spared the palms and soles. The rest of the examination, including ultrasound scans of the abdomen and the head, and echocardiogram were normal.

© CAGS 2024. All rights reserved.