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

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 w...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2020-05, Vol.182 (5), p.1066-1072
Main Authors: Manole, Athanasios K., Forrester, Vernon J., Zlotoff, Barrett J., Hart, Blaine L., Morrison, Leslie A.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Central nervous system
cerebral cavernous malformations
Child
Congenital defects
cutaneous vascular malformations
familial cerebral cavernous malformations
Female
Hemangioma, Cavernous, Central Nervous System - diagnostic imaging
Hemangioma, Cavernous, Central Nervous System - genetics
Hemangioma, Cavernous, Central Nervous System - pathology
Hispanic Americans - genetics
Hispanic people
Humans
KRIT1 mutation
KRIT1 Protein - genetics
Magnetic Resonance Imaging
Male
Middle Aged
Morbidity
Morphology
Mutation
Mutation - genetics
Pedigree
Skin Diseases, Vascular - drug therapy
Skin Diseases, Vascular - genetics
Skin Diseases, Vascular - pathology
Statistical analysis
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.61519