Glomovenous malformation secondary to a heterozygous nonsense variant in GLMN- a clinical mimicker of blue rubber bleb naevus syndrome.
Clinical and experimental dermatology(2023)
Abstract
We present a case of multiple familial cutaneous venous malformations secondary to glomovenous malformation. This case illustrates the importance of considering alternative diagnoses, obtaining histology from venous lesions and genetic testing to help guide optimal management in cases of familial multiple cutaneous venous malformations.
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Key words
glomovenous malformation,heterozygous nonsense variant,syndrome
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