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Pediatr Dermatol ; 35(3): e186-e188, 2018 May.
Article in English | MEDLINE | ID: mdl-29493003

ABSTRACT

A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.


Subject(s)
Abnormalities, Multiple/diagnosis , Class I Phosphatidylinositol 3-Kinases/genetics , Lipoma/diagnosis , Megalencephaly/diagnosis , Musculoskeletal Abnormalities/diagnosis , Nevus/diagnosis , Skin Diseases, Vascular/diagnosis , Telangiectasis/congenital , Vascular Malformations/diagnosis , Abnormalities, Multiple/genetics , Abnormalities, Multiple/therapy , Base Sequence , Bronchodilator Agents/therapeutic use , Diagnosis, Differential , Enteral Nutrition , Humans , Immunosuppressive Agents/therapeutic use , Infant, Newborn , Lipoma/genetics , Lipoma/therapy , Male , Megalencephaly/genetics , Megalencephaly/therapy , Musculoskeletal Abnormalities/genetics , Musculoskeletal Abnormalities/therapy , Mutation , Nevus/genetics , Nevus/therapy , Phenotype , Respiration, Artificial/methods , Sirolimus/therapeutic use , Skin Diseases, Vascular/genetics , Skin Diseases, Vascular/therapy , Telangiectasis/diagnosis , Telangiectasis/genetics , Telangiectasis/therapy , Vascular Malformations/genetics , Vascular Malformations/therapy
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