title: Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features.
abstract: Macrocephaly-cutis marmorata telangiectatica congenita is a recently recognized syndrome described mainly in the genetics literature. However, children with macrocephaly-cutis marmorata telangiectatica congenita are likely to present first to a dermatologist, with generalized cutis marmorata telangiectatica congenita as the main feature. These children are at risk of neurologic abnormalities and life-threatening complications. Therefore it is important for dermatologists to recognize this syndrome to monitor these children for potential complications. We report the case of a 2-year-old boy with macrocephaly-cutis marmorata telangiectatica congenita in association with dysmorphic facies, seizures, and facial and limb asymmetry, and we review the salient features of this syndrome.
authors.affiliation: Department of Dermatology, Cardiff University, Cardiff, United Kingdom. ruwanik@hotmail.com
authors.forename: Ruwani
authors.initials: R
authors.lastname: Katugampola
authors.forename: Celia
authors.initials: C
authors.lastname: Moss
authors.forename: Caroline
authors.initials: C
authors.lastname: Mills
mesh_terms: D000015:Abnormalities, Multiple; D002675:Child, Preschool; D006257:Head / Q000002:abnormalities*; D006801:Humans; D008297:Male; D012868:Skin Abnormalities / Q000175:diagnosis*; D013577:Syndrome; D013684:Telangiectasis / Q000151:congenital* / Q000175:diagnosis