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- Title
A case of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome with lipoatrophy as an important clinical manifestation.
- Authors
Schreiber, Ariane; Grenier, Pierre‐Olivier; Auger, Isabelle
- Abstract
Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome is a PIK3 CA-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 habitus (lipoatrophy) contrasting with areas of overgrowth can be an important clinical feature of this syndrome and, if not recognized, can lead to unnecessary investigations.
- Subjects
EPIDERMAL nevus syndromes; SCOLIOSIS; SKELETAL abnormalities; ADIPOSE tissues; CONGENITAL disorders; SPINE diseases; VASCULAR diseases
- Publication
Pediatric Dermatology, 2017, Vol 34, Issue 6, p735
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/pde.13256