Cutis marmorata telangiectatica congenita: report of 18 cases

Br J Dermatol. 2000 Feb;142(2):366-9. doi: 10.1046/j.1365-2133.2000.03311.x.


We report 18 patients with cutis marmorata telangiectatica congenita (CMTC) who visited the University Hospital Nijmegen between 1982 and 1999. In 11 patients (61%), associated abnormalities of varying severity were observed. Three of these patients had a previously described distinct syndrome comprising CMTC, a naevus flammeus at the upper lip/philtrum, macrocephaly and syndactyly, among other abnormalities. Findings in the other eight patients with associated abnormalities included hydrocephalus, hyperplasia/hypoplasia (body asymmetry), anal atresia, hearing loss, cardiovascular abnormalities, strabismus hypothyroidism, haemangioma, naevus anaemicus, café-au-lait spot, lipoma and an elevation of the right diaphragm. All cases were sporadic.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Female
  • Humans
  • Male
  • Port-Wine Stain / diagnosis
  • Retrospective Studies
  • Skin Diseases, Vascular / diagnosis*
  • Syndrome