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Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
Author(s) -
Kumar Akash,
Zastrow Diane B.,
Kravets Elijah J.,
Beleford Daniah,
Ruzhnikov Maura R. Z.,
Grove Megan E.,
Dries Annika M.,
Kohler Jennefer N.,
Waggott Daryl M.,
Yang Yaping,
Huang Yong,
Mackenzie Katherine M.,
Eng Christine M.,
Fisher Paul G.,
Ashley Euan A.,
Teng Joyce M.,
Stevenson David A.,
Shieh Joseph T.,
Wheeler Matthew T.,
Bernstein Jonathan A.
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61134
Subject(s) - gnaq , medicine , pathology , dermatology , mutation , biology , genetics , gene
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.