Cutis marmorata telangiectatica congenita: report of 18 cases.
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.
Gerritsen
M J
MJ
Department of Dermatology, University Hospital Nijmegen, The Netherlands. m.gerritsen@derma.azn.nl
Steijlen
P M
PM
Brunner
H G
HG
Rieu
P
P
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008297:Male; D019339:Port-Wine Stain / Q000175:diagnosis; D012189:Retrospective Studies; D017445:Skin Diseases, Vascular / Q000175:diagnosis*; D013577:Syndrome