@article{b5b1202841414effade3ab8c3480da98,
title = "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-occurrence as well as published recommendations for surveillance after diagnosis. Features assessed include: capillary malformation; dermal and ocular melanocytosis; glaucoma; limb asymmetry; venous malformations; and central nervous system (CNS) anomalies, such as ventriculomegaly and calcifications. We found that ocular findings are common in patients with phacomatosis cesioflammea and cesiomarmorata. Facial vascular involvement correlates with a higher risk of seizures (p =.0066). Our genetic results confirm the role of mosaic somatic mutations in GNAQ and GNA11 in phacomatosis cesioflammea and cesiomarmorata. Their clinical and molecular findings place these conditions on a clinical spectrum encompassing other GNAQ and GNA11 related disorders and inform recommendations for their management.",
keywords = "GNA11, GNAQ, management, phacomatosis cesioflammea, phacomatosis cesiomarmorata, phacomatosis pigmentovascularis",
author = "{Undiagnosed Diseases Network} and Akash Kumar and Zastrow, {Diane B.} and Kravets, {Elijah J.} and Daniah Beleford and Ruzhnikov, {Maura R.Z.} and Grove, {Megan E.} and Dries, {Annika M.} and Kohler, {Jennefer N.} and Waggott, {Daryl M.} and Yaping Yang and Yong Huang and Mackenzie, {Katherine M.} and Eng, {Christine M.} and Fisher, {Paul G.} and Ashley, {Euan A.} and Teng, {Joyce M.} and Stevenson, {David A.} and Shieh, {Joseph T.} and Wheeler, {Matthew T.} and Bernstein, {Jonathan A.} and Adams, {David R.} and Aaron Aday and Alejandro, {Mercedes E.} and Patrick Allard and Azamian, {Mahshid S.} and Bacino, {Carlos A.} and Eva Baker and Ashok Balasubramanyam and Hayk Barseghyan and Batzli, {Gabriel F.} and Beggs, {Alan H.} and Babak Behnam and Bellen, {Hugo J.} and Bernstein, {Jonathan A.} and Anna Bican and Bick, {David P.} and Birch, {Camille L.} and Devon Bonner and Boone, {Braden E.} and Bostwick, {Bret L.} and Briere, {Lauren C.} and Elly Brokamp and Brown, {Donna M.} and Matthew Brush and Burke, {Elizabeth A.} and Burrage, {Lindsay C.} and Butte, {Manish J.} and Shan Chen and Melissa Haendel and Koeller, {David M.}",
note = "Funding Information: This work was supported in part by the Intramural Research Program of the National Human Genome Research Institute and by the National Institutes of Health Common Fund, through the Office of Strategic Coordination, Office of the NIH Director under Award Numbers U01 HG007708, U01 HG007709, U01 HG007703, U01 HG007530, U01 HG007942, U01 HG007690, U01 HG007674, U01 HG007672, U01 TR001395, U01 HG007943, and U54 NS093793. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. Publisher Copyright: {\textcopyright} 2019 Wiley Periodicals, Inc.",
year = "2019",
month = jun,
day = "1",
doi = "10.1002/ajmg.a.61134",
language = "English (US)",
volume = "179",
pages = "966--977",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "6",
}