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Isolated and Classic CMTC

Overview article about CMTC

Dr Millan Patel, senior author of the review article on CMTC


If you are looking for a good and comprehensive review article on CMTC, the article by Tamburro et al. (Isolated and Classic Cutis Marmorata Telangiectatica Congenita, 9 June 2022) is highly recommended. Clinical and molecular (which genes are abnormal?) diagnosis is discussed, treatment, how common is it, what needs to be checked regularly? (skin, eyes, bones, muscles), is it genetically transmitted or not?

Below a summary of the clinical characteristics. Authors of the discussed article are: Joan Tamburro, DO, Elias I Traboulsi, MD, MEd, and Millan S Patel, MD, MSc (photo top).

Clinical characteristics

Isolated and classic cutis marmorata telangiectatica congenita (CMTC) both are characterized by congenital skin changes including erythematous-to-violaceous, reticulated, net-like or marbled-appearing patches of skin that do not mostly or completely resolve with warming or any other acute intervention. Individuals with isolated CMTC have no other syndromic features, and skin lesions tend to fade or resolve. Those with classic CMTC may have accompanying hemihypoplasia with body asymmetry, skin atrophy or ulceration, other vascular malformations, and occasional ocular issues (early-onset glaucoma and/or peripheral retinal vascular attenuation) but do not have other malformations, dysmorphic features, or cognitive impairment. The most common location for the CMTC lesions is on the legs. An affected limb may also display weakness or be unusually susceptible to cold compared to an unaffected limb. In more than half of affected individuals, skin lesions will generally fade across a wide range in age (6 weeks to 26 years), most commonly in the first year of life, but may not resolve completely.

Link to article

Author Dr Lilian Vermeer