Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report

Pieter Denorme; Marie-Anne Morren; Silke Hollants; Marijke Spaepen; Kate Suaer; Nele Zutterman; Veerle Labarque; Eric Legius; Hilde Brems

doi:10.1111/pde.13441

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report

Pediatr Dermatol. 2018 May;35(3):e186-e188. doi: 10.1111/pde.13441. Epub 2018 Mar 1.

Authors

Pieter Denorme¹, Marie-Anne Morren¹, Silke Hollants², Marijke Spaepen², Kate Suaer³, Nele Zutterman⁴, Veerle Labarque⁵, Eric Legius^{2

6}, Hilde Brems⁶

Affiliations

¹ Department of Dermatology, Microbiology, and Immunology, Universitaire Ziekenhuizen Leuven, Leuven, Belgium.
² Department of Human Genetics, Universitaire Ziekenhuizen Leuven, Leuven, Belgium.
³ Department of Paediatric Medicine, AZ Sint-Jan, Brugge, Belgium.
⁴ Department of Dermatology, AZ Sint-Lucas, Brugge, Belgium.
⁵ Department of Paediatric Medicine, Universitaire Ziekenhuizen Leuven, Leuven, Belgium.
⁶ Department of Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.

PMID: 29493003
DOI: 10.1111/pde.13441

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.

Keywords: CLOVES syndrome; MCAP syndrome; PIK3CA-related overgrowth spectrum; PROS; mosaicism; overgrowth syndrome; somatic mutation.

Publication types

Case Reports

MeSH terms

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

Substances

Bronchodilator Agents
Immunosuppressive Agents
Class I Phosphatidylinositol 3-Kinases
PIK3CA protein, human
Sirolimus

Supplementary concepts

Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Megalencephaly cutis marmorata telangiectatica congenita