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Neonatal Med > Volume 19(2); 2012 > Article
Journal of the Korean Society of Neonatology 2012;19(2):98-101.
DOI: https://doi.org/10.5385/jksn.2012.19.2.98    Published online May 31, 2012.
A Case of Cutis Marmorata Telangiectatica Congenita with Onychodysplasia.
Joo Young Moon, Ja Hyang Cho, Yun Seok Yang, Ji Young Chang, Chong Woo Bae
1Department of Pediatrics, School of Medicine, Kyung Hee University, Seoul, Korea. jychang@khnmc.or.kr
2Department of Dermatology, School of Medicine, Kyung Hee University, Seoul, Korea.
Abstract
Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder, and its pathophysiology is still unclear and most cases occur sporadically. Cutaneous lesions are observed at birth with a marbled bluish and deep-purple appearance. The associated anomaly is manifest as body asymmetry, macrocephaly, hydrocephalus, mental retardation, syndactyly and congenital glaucoma. We report our experience of CMTC1 in a female infant with the gestational age of 34 weeks and 6 days and birth weight of 2,300 g who was born by cesarean section with abnormal skin lesions. The cutaneous lesions covered most of the lower body and they faded as she continues to grow. She also had onychodysplasia in her left 2nd phalanges. In this case, close follow up by not only pediatricians but also ophthalmologist and neurologists to treat various forms of lesions involved, though the prognosis of CMTC is generally good.
Key Words: Cutis marmorata telangiectatica congenita, Telangiectasia, Vascular malformations, Onychodysplasia


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