Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome.

ABSTRACT:

Background

The plantar cerebriform connective tissue nevus (CCTN) is the most common and problematic cutaneous manifestation of Proteus syndrome.

Objective

To gain insights into CCTN pathogenesis and natural history.

Methods

The size and location of plantar CCTN was measured on 152 images from 22 individuals with Proteus syndrome by 2 independent, blinded reviewers. Average measures of plantar CCTN were transformed into a linear mixed model to estimate proportionate change in size with age.

Results

Median patient age was 6.9 years at study onset. The intraclass correlation coefficient between 2 blinded reviewers was 0.946 for CCTN single measures. The CCTN relative area increased with age in children (n = 18, P < .0001) by 5.6% per year. Confluent papules and n

SUBMITTER: Nathan NR 

PROVIDER: S-EPMC5857242 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature