Macrocheilia as an Atypical Clinical Presentation of Capillary Malformation–Arteriovenous Malformation Type 2

Author:

Rovira-López Roger1,Pérez-Jurado Luis A.2,Pujol Ramon M.1

Affiliation:

1. Department of Dermatology, Hospital del Mar-Institut Mar d’Investigacions Mèdiques, Universitat Autònoma de Barcelona, Barcelona, Spain

2. Genetics Department, Hospital del Mar-Institut Mar d’Investigacions Mèdiques, Universitat Pompeu Fabra, Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain

Abstract

This case report describes a 53-year-old man with multiple erythematous macules and papules diffusely distributed on the frontal area, cheeks, eyelids, nose, and supralabial skin.

Publisher

American Medical Association (AMA)

Reference5 articles.

1. Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling.;Amyere;Circulation,2017

2. Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?;Wooderchak-Donahue;Genet Med,2019

3. Capillary malformation-arteriovenous malformation syndrome: a multicentre study.;Valdivielso-Ramos;Clin Exp Dermatol,2021

4. Capillary malformation-arteriovenous malformation type 2: a case report and Review.;Brix;Acta Derm Venereol,2022

5. Bayrak-Toydemir? P, Stevenson? DA. Capillary malformation-arteriovenous malformation syndrome. Accessed January 24, 2023. https://www.ncbi.nlm.nih.gov/books/NBK52764/

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