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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<jats:italic>GNAQ<\/jats:italic>and<jats:italic>GNA11<\/jats:italic>. Here, we present three new cases of PPV with features of the cesioflammea and\/or cesiomarmorata subtypes and mosaic mutations in<jats:italic>GNAQ<\/jats:italic>or<jats:italic>GNA11<\/jats:italic>. 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\u2010occurrence 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 (<jats:italic>p<\/jats:italic>\u2009=\u2009.0066). Our genetic results confirm the role of mosaic somatic mutations in<jats:italic>GNAQ<\/jats:italic>and<jats:italic>GNA11<\/jats:italic>in phacomatosis cesioflammea and cesiomarmorata. Their clinical and molecular findings place these conditions on a clinical spectrum encompassing other<jats:italic>GNAQ<\/jats:italic>and<jats:italic>GNA11<\/jats:italic>related disorders and inform recommendations for their management.<\/jats:p>","DOI":"10.1002\/ajmg.a.61134","type":"journal-article","created":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T09:22:41Z","timestamp":1553764961000},"page":"966-977","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9442-3597","authenticated-orcid":false,"given":"Akash","family":"Kumar","sequence":"first","affiliation":[{"name":"Department of Pediatrics Stanford School of Medicine Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8506-6812","authenticated-orcid":false,"given":"Diane B.","family":"Zastrow","sequence":"additional","affiliation":[{"name":"Stanford Center for Undiagnosed Diseases Stanford University Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elijah J.","family":"Kravets","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Stanford School of Medicine Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniah","family":"Beleford","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics and Division of Medical Genetics, Pediatrics San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maura R. 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