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Article

Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.

American journal of medical genetics. Part A - 1 May 2020

Manole Athanasios K, Forrester Vernon J, Zlotoff Barrett J, Hart Blaine L, Morrison Leslie A

Abstract excerpt

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...

Topics

Adolescent
Adult
Aged
Child
Female
Hemangioma, Cavernous, Central Nervous System
Hispanic or Latino
Humans
KRIT1 Protein
Magnetic Resonance Imaging
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation

Pedigree

Skin Diseases, Vascular

Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 32100472
DOI: 10.1002/ajmg.a.61519
PMCID: PMC8208466

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-32100472-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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