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Cutis marmorata telangiectatica congenita: report of 18 cases
Author(s) -
Gerritsen M.J.P.,
Steijlen P.M.,
Brunner H.G.,
Rieu P.
Publication year - 2000
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.2000.03311.x
Subject(s) - medicine , syndactyly , macrocephaly , anal atresia , microtia , philtrum , hypoplasia , scalp , anatomy , dermatology , atresia , pathology , upper lip
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.