J Korean Soc Neonatol.  2012 May;19(2):98-101. 10.5385/jksn.2012.19.2.98.

A Case of Cutis Marmorata Telangiectatica Congenita with Onychodysplasia

• Moon JY
• Cho JH
• Yang YS
• Chang JY
• Bae CW

• KMID: 2188404
• DOI: http://doi.org/10.5385/jksn.2012.19.2.98

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.

Keyword

Cutis marmorata telangiectatica congenita; Telangiectasia; Vascular malformations; Onychodysplasia

MeSH Terms

Birth Weight
Cesarean Section
Female
Follow-Up Studies
Gestational Age
Glaucoma
Humans
Hydrocephalus
Infant
Intellectual Disability
Macrocephaly
Parturition
Pregnancy
Prognosis
Skin
Skin Diseases, Vascular
Syndactyly
Telangiectasis
Vascular Malformations
Skin Diseases, Vascular
Telangiectasis