1.
An Bras Dermatol
; 91(3): 378-80, 2016.
Article
in English
| MEDLINE
| ID: mdl-27438212
ABSTRACT
CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.
Subject(s)
Lipoma/diagnosis , Musculoskeletal Abnormalities/diagnosis , Nevus/diagnosis , Vascular Malformations/diagnosis , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/diagnostic imaging , Adipose Tissue/abnormalities , Child, Preschool , Humans , Lipoma/diagnostic imaging , Magnetic Resonance Imaging , Male , Musculoskeletal Abnormalities/diagnostic imaging , Nevus/diagnostic imaging , Photography , Vascular Malformations/diagnostic imaging
2.
An. bras. dermatol
; 91(3): 378-380, graf
Article
in English
| LILACS
| ID: lil-787300
ABSTRACT
Abstract: CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.