Capillary malformations Article Swipe
Adrienne M. Hammill
,
Elisa Boscolo
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1172/jci172842
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1172/jci172842
Capillary malformation (CM), or port wine birthmark, is a cutaneous congenital vascular anomaly that occurs in 0.1%-2% of newborns. Patients with a CM localized on the forehead have an increased risk of developing a neurocutaneous disorder called encephalotrigeminal angiomatosis or Sturge-Weber syndrome (SWS), with complications including seizure, developmental delay, glaucoma, and vision loss. In 2013, a groundbreaking study revealed causative activating somatic mutations in the gene (GNAQ) encoding guanine nucleotide-binding protein Q subunit α (Gαq) in CM and SWS patient tissues. In this Review, we discuss the disease phenotype, the causative GNAQ mutations, and their cellular origin. We also present the endothelial Gαq-related signaling pathways, the current animal models to study CM and its complications, and future options for therapeutic treatment. Further work remains to fully elucidate the cellular and molecular mechanisms underlying the formation and maintenance of the abnormal vessels.
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Metadata
- Type
- review
- Language
- en
- Landing Page
- https://doi.org/10.1172/jci172842
- OA Status
- gold
- Cited By
- 18
- References
- 135
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4394792358
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4394792358Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1172/jci172842Digital Object Identifier
- Title
-
Capillary malformationsWork title
- Type
-
reviewOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
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2024-04-14Full publication date if available
- Authors
-
Adrienne M. Hammill, Elisa BoscoloList of authors in order
- Landing page
-
https://doi.org/10.1172/jci172842Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.1172/jci172842Direct OA link when available
- Concepts
-
GNAQ, Birthmark, Sturge–Weber syndrome, Guanine nucleotide exchange factor, Phenotype, Somatic cell, Biology, Medicine, Mutation, Cancer research, Pathology, Genetics, Cell biology, Bioinformatics, Gene, Neuroscience, Signal transduction, DermatologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
18Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 12, 2024: 6Per-year citation counts (last 5 years)
- References (count)
-
135Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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