Capillary malformation-arteriovenous malformation syndrome: a multicentre study.
Adult
Arteriovenous Malformations
/ diagnosis
Brain
/ blood supply
Capillaries
/ abnormalities
Child
Child, Preschool
Data Analysis
Female
Genetic Association Studies
Humans
Incidental Findings
Infant
Male
Mutation
Port-Wine Stain
/ diagnosis
Prevalence
Receptor, EphB4
/ genetics
Skin
/ blood supply
Spain
/ epidemiology
Spine
/ blood supply
Vascular Malformations
/ diagnosis
p120 GTPase Activating Protein
/ genetics
Journal
Clinical and experimental dermatology
ISSN: 1365-2230
Titre abrégé: Clin Exp Dermatol
Pays: England
ID NLM: 7606847
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
19
06
2020
revised:
10
08
2020
accepted:
19
08
2020
pubmed:
26
8
2020
medline:
13
10
2021
entrez:
26
8
2020
Statut:
ppublish
Résumé
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare syndrome with characteristic skin lesions that are associated with fast-flow vascular malformations (FFVMs) in one-third of patients. Few case series have been described, and none in Spain. To identify the prevalence of dermatological parameters, FFVMs and associated features in a large series of patients with CM-AVM. We conducted an observational study of patients with CM-AVM syndrome diagnosed in 15 Spanish hospitals over 3 years. The main clinical, radiological, genetic findings and associated diseases were analysed. In total, 64 patients were assessed. In 26.5% of cases, the diagnosis was incidental. In 75% of patients, there was one significantly larger macule, which we termed the 'herald patch'. FFVMs were detected in 34% of the patients, with 30% located on the skin, 7.8% in the brain and in 1.5% in the spine. There was a positive family history in 65% of the 64 patients. Genetic analysis was performed for RASA1 mutations in 57 patients, of whom 42 (73%) had a positive result. All 4 patients tested for EPHB4 mutations had a positive result. No tumour lesions were detected in the series, except for five infantile haemangiomas. Our data on clinical lesions, associated FFVM, family history and genetics are similar to those previously published in the literature. An extensive data analysis failed to demonstrate any statistically significant association between the presence of an FFVM and any clinical, familial or genetic parameter that could predict its onset, although a link between the presence of a herald patch on the midline face and the presence of a brain FFVM was observed. We did not detect any genotype-phenotype correlation.
Sections du résumé
BACKGROUND
BACKGROUND
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare syndrome with characteristic skin lesions that are associated with fast-flow vascular malformations (FFVMs) in one-third of patients. Few case series have been described, and none in Spain.
AIM
OBJECTIVE
To identify the prevalence of dermatological parameters, FFVMs and associated features in a large series of patients with CM-AVM.
METHODS
METHODS
We conducted an observational study of patients with CM-AVM syndrome diagnosed in 15 Spanish hospitals over 3 years. The main clinical, radiological, genetic findings and associated diseases were analysed.
RESULTS
RESULTS
In total, 64 patients were assessed. In 26.5% of cases, the diagnosis was incidental. In 75% of patients, there was one significantly larger macule, which we termed the 'herald patch'. FFVMs were detected in 34% of the patients, with 30% located on the skin, 7.8% in the brain and in 1.5% in the spine. There was a positive family history in 65% of the 64 patients. Genetic analysis was performed for RASA1 mutations in 57 patients, of whom 42 (73%) had a positive result. All 4 patients tested for EPHB4 mutations had a positive result. No tumour lesions were detected in the series, except for five infantile haemangiomas.
CONCLUSIONS
CONCLUSIONS
Our data on clinical lesions, associated FFVM, family history and genetics are similar to those previously published in the literature. An extensive data analysis failed to demonstrate any statistically significant association between the presence of an FFVM and any clinical, familial or genetic parameter that could predict its onset, although a link between the presence of a herald patch on the midline face and the presence of a brain FFVM was observed. We did not detect any genotype-phenotype correlation.
Substances chimiques
EPHB4 protein, human
0
RASA1 protein, human
0
p120 GTPase Activating Protein
0
Receptor, EphB4
EC 2.7.10.1
Types de publication
Journal Article
Multicenter Study
Observational Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
300-305Informations de copyright
© 2020 British Association of Dermatologists.
Références
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