John Libbey Eurotext

European Journal of Dermatology


Glomulin mutation and glomuvenous malformations: two case reports with the same mutation but different phenotypes Volume 28, issue 5, September-October 2018


  • Figure 1
1 Unidad de Gestión Clínica Dermatología y Venereología,
2 Servicio de Inmunología, Unidad de Gestión Clínica de Hematología, Inmunología y Genética. Hospital Universitario Puerta del Mar, Cádiz, Spain

Glomuvenous malformations (GVMs) present as blue nodular or plaque-like skin lesions that are painful to palpation. They are related to a mutation in the glomulin gene which is transmitted as an autosomal dominant trait with variable expressivity and incomplete penetrance. Here, we present two cases with glomulin mutation and GVM.Case 1 was a 14-year-old boy who presented with blue segmental plaques on his back and buttocks since birth (figure 1A). There was no family history of similar lesions. [...]