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

Undiagnosed Diseases Network

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)966-977
Number of pages12
JournalAmerican Journal of Medical Genetics, Part A
Volume179
Issue number6
DOIs
StatePublished - Jun 1 2019

Fingerprint

Neurocutaneous Syndromes
Blood Vessels
Mutation
Nervous System Malformations
Skin
Glaucoma
Seizures
Extremities
Central Nervous System
Genes
Phacomatosis pigmentovascularis

Keywords

  • GNA11
  • GNAQ
  • management
  • phacomatosis cesioflammea
  • phacomatosis cesiomarmorata
  • phacomatosis pigmentovascularis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata : Case series and literature review. / Undiagnosed Diseases Network.

In: American Journal of Medical Genetics, Part A, Vol. 179, No. 6, 01.06.2019, p. 966-977.

Research output: Contribution to journalArticle

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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.",
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