The Misnomer “Macrocephaly–Cutis Marmorata Telangiectatica Congenita Syndrome”

Abstract

Background: The condition known as macrocephalycutis marmorata telangiectatica congenita syndrome (M-CMTC) is a rare congenital syndrome of unknown etiology characterized by macrocephaly and vascular lesions that have been described as either cutis marmorata or cutis marmorata telangiectatica congenita (CMTC). Most patients also exhibit facial and limb asymmetry; somatic overgrowth; developmental delay; capillary malformations of the nose, philtrum, and/or upper lip; neurologic abnormalities; syndactyly or polydactyly; craniofacial abnormalities; and joint laxity or soft skin. Observations: We describe 12 patients with this condition from tertiary care medical centers (8 cases) and accrued via an M-CMTC support group Web site (4 cases). All patients showed reticulated or confluent port-wine stains (PWS), not CMTC. Seven of the 12 patients also had centrofacial capillary malformations. In our comprehensive review of 100 previously reported cases, only 34 were accompanied by photographs that were sufficiently clear to review for diagnostic purposes. None had true CMTC, with most having reticulated PWS or persistent cutis marmorata. Conclusions: Reticulated or confluent PWS and persistent capillary malformations of the central face, rather than CMTC, are the most characteristic cutaneous vascular anomalies seen in so-called M-CMTC syndrome. The name macrocephaly-capillary malformations (M-CM) more accurately reflects the features of this syndrome.

Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea

“…The diagnostic criteria for this syndrome have been proposed by many clinical groups, and Table 1 shows the commonly used diagnostic criteria567). In their proposal of the diagnostic criteria, Mirzaa et al7) suggested renaming MCM as MCAP.…”

“…Many diagnostic criteria have been proposed by several authors56). Recently, Mirzaa et al7) suggested the use of the term MCAP rather than MCM to reflect the large brain size, rather than simply the head circumference and to emphasize the frequency and importance of perisylvian polymicrogyria.…”

Non-Infantile Desmoplastic Cerebellar Ganglioglioma in a Patient with Multiple Congenital Anomalies: A Rare Association

“…This syndrome was renamed by Wright et al [9] as the macrocephaly-capillary malformation (M-CM) syndrome. They described major and minor criteria for the diagnosis of the M-CM syndrome.…”

Two Cases of Hemihyperplasia–Multiple Lipomatosis Syndrome and Review of Asymmetric Hemihyperplasia Syndromes

“…Patients with CLOVES, SOLAMEN, or HHML all have segmental overgrowth and vascular malformations in conjunction with lipomas, but CLOVES syndrome is characterized by congenital bilateral splaying of the feet, skeletal anomalies, scoliosis, or any combination of the three, and in most cases, epidermal nevi , while in SOLAMEN syndrome patients have classical manifestations of Cowden disease in association with arteriovenous and lymphatic vascular malformations and linear epidermal nevi . Finally, patients with macrocephaly–capillary malformation syndrome (formerly known as macrocephaly–cutis marmorata syndrome) also often exhibit asymmetric overgrowth in association with reticulated capillary malformations; however, this diagnosis requires the presence of macrocephaly . Other associated features of macrocephaly–capillary malformation syndrome include developmental delay, syndactyly or polydactyly, and joint hypermobility .…”