Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
| Autor: | Kumar, Akash, Zastrow, Diane B, Kravets, Elijah J, Beleford, Daniah, Ruzhnikov, Maura RZ, Grove, Megan E, Dries, Annika M, Kohler, Jennefer N, Waggott, Daryl M, Yang, Yaping, Huang, Yong, Undiagnosed Diseases Network, 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 |
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| Rok vydání: | 2019 |
| Předmět: |
Male
Genotype Clinical Sciences GNA11 Whole Exome Sequencing Rare Diseases GNAQ phacomatosis cesioflammea phacomatosis pigmentovascularis Diagnosis Exome Sequencing Genetics Humans 2.1 Biological and endogenous factors Aetiology Child Eye Disease and Disorders of Vision Alleles Skin Gq-G11 Neurocutaneous Syndromes phacomatosis cesiomarmorata Neurosciences Infant Undiagnosed Diseases Network Magnetic Resonance Imaging GTP-Binding Protein alpha Subunits Phenotype Differential Mutation Magnetic Resonance Angiography management |
| Zdroj: | American journal of medical genetics. Part A, vol 179, iss 6 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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