Article
A case of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome with lipoatrophy as an important clinical manifestation.
Pediatric dermatology - 1 Nov 2017
Schreiber Ariane, Grenier Pierre-Olivier, Auger Isabelle
Abstract excerpt
Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome is a PIK3CA-related overgrowth spectrum presenting with congenital, asymmetric, disproportionate overgrowth associated with dysregulated adipose tissue, enlarged bony structures, and mixed primarily truncal vascular malformations. We present this case to raise awareness that very thin body...
Topics
- Abnormalities, Multiple
- Adipose Tissue
- Child, Preschool
- Class I Phosphatidylinositol 3-Kinases
- Humans
- Lipoma
- Male
- Musculoskeletal Abnormalities
- Nevus
- Phenotype
- Scoliosis
- Vascular Malformations