Cerebriform connective tissue nevus of lumbar

Chen, Jinbo; Duan, Yiqun; Li, Dongsheng; Dong, Bilin

doi:10.1111/1346-8138.12735

Cited by 1 publication

(1 citation statement)

References 6 publications

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“…A number of individuals have been described with collagenous CTN that were not associated with features of either Proteus syndrome or PROS (Botella-Estrada et al 1991;Martinez et al 1994;Altinyazar et al 2002;Choi et al 2002;Nico et al 2003;Rodríguez-Martin et al 2007;Nelson and Ruben 2008;McCuaig et al 2012;Chen et al 2015). Either these individuals may have a form of Proteus syndrome or PROS that is so anatomically limited as to be unrecognizable as such or CCTNs and CTNs are indeed etiologically heterogeneous.…”

Section: Discussionmentioning

confidence: 99%

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

Keppler‐Noreuil

Burton-Akright

Lindhurst

et al. 2019

Cold Spring Harb Mol Case Stud

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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. These data show that CCTNs are not specific to Proteus syndrome and that clinicians should be cautious in diagnosing individuals with Proteus syndrome based on the CCTN alone. Rather, a complete evaluation should include careful assessment of other attributes of the diagnostic criteria and, whenever possible, genetic analysis of affected tissue.

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