John Libbey Eurotext

European Journal of Dermatology


Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations Volume 30, numéro 2, March-April 2020


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1 Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Fleischmannstraße 43, 17475 Greifswald, Germany
2 Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 10, 91054 Erlangen, Germany
3 Institute of Pathology, University Hospital Erlangen, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Krankenhausstraße 8-10, 91054 Erlangen, Germany

Glomuvenous malformations (GVMs) are painful vascular lesions with distended venous lumina that are surrounded by multiple layers of smooth muscle-like glomus cells [1, 2]. They usually have a cobblestone-like structure covered by slightly hyperkeratotic epithelium with a pink-to-purplish dark-blue colouration and cannot be completely compressed. Plaque-like GVMs have also been reported [3]. Familial GVMs (OMIM: 138000) are inherited in an autosomal dominant manner and associated with heterozygous [...]