Abstract
Glomuvenous malformations usually present as soft bluish-purple dermal or subcutaneous papules, nodules or plaques, and can occur as sporadic or inherited lesions. We present the case of a 41-year-old female, referred for evaluation of disseminated bluish lesions developing since puberty. Histopathology was consistent with the diagnosis of glomuvenous malformations. The history of a sister with similar lesions justified a genetic study of the glomulin gene that revealed a pathogenic mutational variant allowing thediagnosis of familial disseminated cutaneous glomuvenous malformations. Whereas surgical management is often used for symptomatic solitary lesions of glomuvenous malformations, other treatment modalities have been reported for treatment of multiple lesions, with variable results. The patient underwent sclerotherapy with polidocanol and there were significant symptomatic and cosmetic improvements after six sessions, with no adverse effects and no recurrence after 6 months.
Highlights
Glomuvenous malformations (GVM), known as glomangiomas, are benign abnormal vascular proliferations arising from glomus cells,[1] which are considered modified smooth muscle cells of the glomus body, a specialized form of arteriovenous anatomosis involved in thermal and baroregulation.[2,3]
We present a patient with multiple hereditary GVM who was successfully treated using sclerotherapy techniques
Attending to the family background, the patient underwent mutational analysis for the GLMN gene (1p2122), which revealed heterozygosity for a pathogenic variant not previously reported in the literature – c.971dupT p.(Leu324Phefs*19)
Summary
Escleroterapia no Tratamento de Malformações Glomuvenosas Cutâneas Disseminadas Familiares: Relato de Caso. O exame histopatológico foi compatível com o diagnóstico de malformações glomuvenosas. A história familiar de uma irmã com lesões semelhantes motivou o estudo genético do gene da glomulina na nossa doente, que revelou uma variante patogénica e possibilitou o diagnóstico de malformações glomuvenosas cutâneas disseminadas familiares. Malformações glomuvenosas únicas ou escassas, sintomáticas, são frequentemente submetidas a excisão cirúrgica, enquanto que outras modalidades terapêuticas têm sido reportadas no tratamento de lesões múltiplas, com resultados variáveis. Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report. The history of a sister with similar lesions justified a genetic study of the glomulin gene that revealed a pathogenic mutational variant allowing the diagnosis of familial disseminated cutaneous glomuvenous malformations.
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