Cutis Marmorata Telangiectatica Congenita (CMTC), Vascular Malformation, Malformation, Congenital - DermAtlas

Contributor

Albert Yan, MD

Diagnosis

cutis marmorata telangiectatica congenita (CMTC) vascular malformation malformation, congenital

Body Site

leg thigh buttock

Age

2 years

Pigmentation

light

Organization

reticulated

Color

purple

Morphology

macular / flat (macule / patch)

Pattern

asymmetric

Comments

At birth this 2-year-old girl was noted to have a reticulated purple patch on her right leg, right arm, and trunk. She had normal cardiovascular and neurologic evaluations, and growth and development have been nornal.Cutis marmorata telangiectatica congenita (CMTC) was first described in 1922 by a Dutch pediatrician named Van Lohuizen. It is an uncommon congenital malformation of capillaries and veins. The pathogenesis is unknown, but it is believed to occur via somatic mosaicism. Clinically CMTC manifests as a localized or generalized reticulated pattern of telengiectasia and phlebectasia in the skin. It resembles physiologic cutis marmorata (CM), and like CM it may be enhanced by cold. However, it does not resolve upon warming of the skin and may result in skin atrophy and ulceration. CMTC typically involves the limbs in which asymmetry may be noted. Although the lesions may resolve, persistence has also been noted in many patients. In the persistent cases laser treatment of the vascular lesion may be considered. Compression and shoe lifts may be indicated for presence of varicosities and leg asymmetry, respectively. Females are affected more often than males. Associated anomalies are frequently reported, and the most common findings are limb asymmetry and port-wine stains. Other anomalies include glaucoma, hemangioma, congenital pigmented nevus, café-au-lait macules, hypospadias, cleft palate, patent ductus arteriosus, and mental retardation. Adams-Oliver syndrome and macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) syndrome are rare disorders that are associated with CMTC. Adams-Oliver syndrome presents with aplasia cutis congenita and distal limb reduction abnormalities with occasional CNS and cardiac involvement. M-CMTC is associated with one or more of the following traits: syndactyly, segmental overgrowth, neonatal hypotonia, developmental delay, connective tissue defect, frontal bossing, midline facial nevus flammeus, and hydrocephalus. A report by Carrascosa et al. described the case of an infant girl with CMTC-like lesions in association with neonatal lupus. The authors suggested that the clinical manifestations of CMTC may occur in the context of neonatal lupus.

Description

partially blanchable, reticulated purple patches with mild atrophy

Image Added

5/21/2006 22:26:56

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PubMed Medline Plus Medscape

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