Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition

Abstract

Background/ObjectivesCutis marmorata telangiectatica congenita (CMTC) is a capillary malformation characterized by congenital, reticulated, well‐demarcated dark blue, red‐purple, or violaceous macules or plaques, with a coarse fixed livedo pattern. Nearly always, contiguous areas of skin atrophy and/or ulceration are present. CMTC is usually localized but may rarely be generalized. Such generalized cases may be a feature of Adams‐Oliver syndrome (AOS). The nosologic confusion surrounding the term CMTC and uncertainty about the risk of associated abnormalities hinders the appropriate workup of patients and prognostic counseling for families. We hypothesized that the risk of associated anomalies in children with localized CMTC is very low.MethodsWe performed a literature review and retrospective review of patients with CMTC to propose a more precise clinical definition and ascertain the risk of associated anomalies.ResultsWe included 78 patients determined to have a diagnosis of CMTC based on consensus. The majority of patients had localized CMTC. Most patients with generalized CMTC met the criteria for the diagnosis of AOS. The associations found in patients with localized CMTC were mostly dermatological, with atrophy, ulcerations, or erosions present in 71%. Extracutaneous findings were present in 34.4% of patients and consisted mainly of extremity asymmetry (24.5%) that improved over time.ConclusionOur study showed a very low frequency of extracutaneous anomalies among patients with localized CTMC, ipsilateral limb discrepancy being the most common. We did not find a strong association with any other visceral anomalies that would justify routine evaluation in patients with localized CMTC.

Reply to: “Letter to the Editor regarding Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition”

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We express our gratitude to the authors for their insightful comments and for dedicating time to provide observations on our work. 1,2 In our study, the diagnosis of cutis marmorata telangiectatica congenita (CMTC) was validated by an assessment of clinical images independently conducted by four investigators (EB, CD, DM, available due to their containing information that could compromise the privacy of research participants.

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