ArticleAmerican journal of medical genetics. Part A2020
Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01764529 (Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations), which is not on this map. Cited by 9 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations
Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Imaging markers and circulating biomarkers for predicting hemorrhage from cerebral cavernous malformations: A systematic review.Neurosurgical review · 2026Pooled it
- The skin as the mirror of the soul: familial multiple cavernous malformation syndrome in an infant with a ruptured intracranial cavernoma and multiple skin lesions.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Neuroradiologic appearance of intracranial vascular lesions associated with multiple lymphangioendotheliomatosis with thrombocytopenia.Radiology case reports · 2026Article
- Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives.Journal of neurochemistry · 2026Review
- Association of Quality of Life Domains and Clinical Symptoms in Patients With Familial Cerebral Cavernous Malformation.Journal of the American Heart Association · 2025Article
- Circulating Blood Prognostic Biomarker Signatures for Hemorrhagic Cerebral Cavernous Malformations (CCMs).International journal of molecular sciences · 2024Article
- Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study.Neuroradiology · 2023Article
- Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation.Molecular genetics & genomic medicine · 2021Article
- Systemic and CNS manifestations of inherited cerebrovascular malformations.Clinical imaging · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Familial cerebral cavernous malformations due to the common Hispanic mutation (FCCM1-CHM) is an endemic condition among the Hispanic population of the Southwestern United States associated with significant morbidity and mortality. Cutaneous vascular malformations (CVMs) can be found in individuals with FCCM1-CHM, but their morphology, prevalence, and association with cerebral cavernous malformations (CCMs) has not been well characterized. A cross-sectional study of 140 individuals with confirmed FCCM1-CHM was performed with statistical analyses of CVM, CCM, and patient characteristics. We then compared these findings to other cohorts with Familial cerebral cavernous malformations (FCCM) due to other mutations. We observed a higher overall prevalence and a different predominant morphological subtype of CVM compared to previous FCCM cohorts. While the number of CVMs was not a reliable indicator of the number of CCMs present, each person with one or more CVMs had evidence of central nervous system (CNS) disease. Awareness of the morphology of these cutaneous lesions can aid in the diagnosis of individuals with FCCM-CHM in Hispanic patients or those with family history of CCM.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.