Right hand with swelling, pain and sensitivity to coldness.
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Multiple vascular anomalies, nodular and scattered, involves the dorsal surface at the level of the first and second finger and also the soft tissues of the thenar eminence and the interdigital space.
The genetic study demonstrated the mutation of the gene encoding glomulin (GLMN; 1p22.1)
Genetic study: The analysis revealed the presence of the genomic variant 395 IG> C in heterozygosis in the GLMNgene.The variant, located in the splicing site, is known in the scientific literature as associated with the clinical indication of the investigation (Ref. Bibliography: Borroni RG et al. Int J Dermatol. 2014 Nov: 53 (11): 1362-4).
Glomuvenous malformations (GVM) are a rare developmental hamartoma that originates from the glomus body. GVM are nodular and scattered, or plaque-like and segmental; are mainly located on the extremities and involved skin and subcutis, whereas venous malformation commonly affects muscles and joints. GVMs are inherited as an autosomal dominant trait and are caused by mutations in the gene encoding glomulin (GLMN; 1p22.1). MRI played an important role in characterizing and determining the extent of the lesion.