Cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

Overgrowth

Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.


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PMID (PMCID)
15337471
 MALE Infant, Newborn
A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features.
Akcar N, Adapinar B, Dinleyici C, Durak B, Ozkan IR.
Ann Genet. 2004;47(3):261-5.
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth.
11477607
 MIXED_SAMPLE Infant
Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.
Yano S, Watanabe Y.
Am J Med Genet. 2001;102(2):149-52.
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) constitutes a distinct entity characterized by prenatal overgrowth, macrosomia, hemihypertrophy, macrocephaly, nonobstructive hydrocephaly, frontal bossing, hypotonia, developmental delay, generalized or facial capillary malformation with upper philtral nevus flammeus and cutis marmorata, joint hypermobility, loose skin, toe syndactyly, and postaxial polydactyly.
9511980
 MALE Infant
MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.
Carcao M, Blaser SI, Grant RM, Weksberg R, Siegel-Bartelt J.
Am J Med Genet. 1998;76(2):165-7.
We describe a child with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), cherry red macules, megalencephaly with hemifacial and segmental overgrowth, macrosomia, and cutis marmorata telangiectasia congenita of the trunk, and visceral and subcutaneous cavernous hemangiomas.