Macrocephaly-Capillary Malformation Syndrome Is Accurate. Goodbye, M-CMTC

The true nature of the vascular lesions in this congenital syndrome supports the adoption of a more appropriate name.

The rare syndrome known as macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly and cutaneous vascular anomalies, together with other, minor features. Recently, it was proposed that this condition be renamed macrocephaly-capillary malformation (M-CM) syndrome because the vascular lesions were not true CMTC. These authors provide supporting evidence that M-CMTC is a misnomer and clarify the defining features of this syndrome in 12 new patients with this syndrome and 100 from the literature.

All 12 of the new patients had capillary malformations, such as port wine stains and nevus flammeus; none had CMTC. Many of the port wine stains had reticulated areas of erythema. Of the 100 previously described …

Reviewing Author

Mary Wu Chang, MD

Disclosures

Consultant / Advisory board Pierre Fabre; Valeant

Speaker’s bureauPierre Fabre

Mary Wu Chang, MD

Disclosures

Consultant / Advisory board Pierre Fabre; Valeant

Speaker’s bureauPierre Fabre