Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.

ABSTRACT: The clinical diagnostic criteria for Proteus syndrome were defined before the discovery of the AKT1 c.49G>A; p.(Glu17Lys) causal variant and used a combination of general and specific phenotypic attributes that could be combined to make a clinical diagnosis. The most heavily weighted specific criterion was the cerebriform connective tissue nevus (CCTN). Here, we describe two individuals with connective tissue nevi (CTNs) and some general attributes of Proteus syndrome who were found to have mosaic PIK3CA variants. CTNs on the soles of individuals with PIK3CA-related overgrowth typically exhibit thickening of the soft tissues with at most a wrinkled surface, but these two patients had firm plaques with ridges and furrows characteristic of CCTNs, which was histologically confirmed in one. Th

SUBMITTER: Keppler-Noreuil KM 

PROVIDER: S-EPMC6672027 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature