Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.

ABSTRACT: Phacomatosis pigmentovascularis (PPV) comprises a family of rare conditions that feature vascular abnormalities and melanocytic lesions that can be solely cutaneous or multisystem in nature. Recently published work has demonstrated that both vascular and melanocytic abnormalities in PPV of the cesioflammea and cesiomarmorata subtypes can result from identical somatic mosaic activating mutations in the genes GNAQ and GNA11. Here, we present three new cases of PPV with features of the cesioflammea and/or cesiomarmorata subtypes and mosaic mutations in GNAQ or GNA11. To better understand the risk of potentially occult complications faced by such patients we additionally reviewed 176 cases published in the literature. We report the frequency of clinical findings, their patterns of co-occurrenc

SUBMITTER: Kumar A 

PROVIDER: S-EPMC6488410 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature