Macrocephaly–cutis marmorata telangiectatica congenita: A case report and review of salient features - 24/04/13
, Celia Moss, FRCP, MRCPCH b, Caroline Mills, FRCP c
Reprint requests: Ruwani Katugampola, MRCP, Department of Dermatology, 3rd Floor, Welsh Institute of Dermatology, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.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.
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| Funding sources: None. |
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| Conflicts of interest: None declared. |
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| This case has been presented previously in the British Society of Paediatric Dermatology section at the annual meeting of the British Association of Dermatologists, July 2006 [abstract published: Katugampola RP, Moss C, Mills CM. Cutis marmorata telangiectatica congenital and macrocephaly: an important dermatological diagnosis. Br J Dermatol 2006;155(Suppl.1):113-4.]. |
Vol 58 - N° 4
P. 697-702 - aprile 2008 Ritorno al numero
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