Cutis marmorata telangiectatica congenita: a literature review
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(2019) 14:283
REVIEW
Open Access
Cutis marmorata telangiectatica congenita: a literature review Teresa Nu Phuong Trinh Bui1,2* , Ayse Corap1,2 and Anette Bygum1,2
Abstract Background: Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation characterised by persistent reticulated marbled erythema. It tends to be associated with cutaneous atrophy, ulcerations and body asymmetry. CMTC is usually reported to be a benign condition; however, associated anomalies are not rare. Here, we have compiled information on published CMTC patients with the aim to evaluate the proposed diagnostic criteria by Kienast et al. and address the clinical manifestations, associated anomalies, differential diagnoses, management and prognosis. Our review is based on a search of the PubMed database which retrieved studies between 1922 and April 2019. The search yielded 148 original articles with a total of 485 patients. Results: Of the identified patients, 24.5% had generalised CMTC, 66.8% had localised and 8.7% had a non-specified distribution of CMTC. Associated anomalies were observed in 42.5% of patients, predominantly body asymmetry and neurological defects like seizure and developmental delay. Fewer patients (10.1%) had ophthalmological defects, usually glaucoma. The major criterium “absence of venectasia” was not met in 20.4% of patients. Conclusion: We suggest that children with CMTC should be referred to an ophthalmologist for regular follow-up, and children with CMTC affecting the legs should be monitored for leg length discrepancy throughout the growth period. Furthermore, we suggest reconsideration of the major criterium “absence of venectasia” from the proposed diagnostic criteria, and instead include body asymmetry. Keywords: Cutis marmorata telangiectatica congenita, CMTC, Van Lohuizen syndrome, Glaucoma, Leg length discrepancy, Associated anomalies
Background Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular anomaly, classified as a simple vascular malformation and subclassified as a capillary malformation (CM) by the International Society for the Study of Vascular Anomalies (ISSVA) [1]. CMTC is described as a persistent reticulated marbled erythema, which blanches with pressure and does not resolve with heating [2, 3]. As it affects capillaries and venules, CMTC is characterised as a slow-flow vascular lesion [4–6]. The affected cutaneous areas may develop cutaneous atrophy and ulcerations, and may also be associated with body asymmetry. The condition has often been reported as benign; however, associated anomalies such as * Correspondence: [email protected]; [email protected] 1 Department of Dermatology and Allergy Centre, J.B. Winsløws Vej 4, Entrance 142, 5000 Odense C, Denmark 2 Department of Clinical Genetics, J.B.Winsløws Vej 4, Entrance 24, 5000 Odense C, Denmark
congenital glaucoma, limb asymmetry and central nervous system involvement are frequently observed, which require the attention of medical professionals [7–10]. CMTC was first described
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