Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report

Detalhes bibliográficos
Autor(a) principal: Gil, Francisco
Data de Publicação: 2019
Outros Autores: Ortiz, Santiago, Aranha, João
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
DOI: 10.29021/spdv.77.3.1087
Texto Completo: https://doi.org/10.29021/spdv.77.3.1087
Resumo: 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.
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spelling Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case ReportEscleroterapia no Tratamento de Malformações Glomuvenosas Cutâneas Disseminadas Familiares: Relato de CasoGlomus Tumor/geneticsGlomus Tumor/therapySclerotherapySkin NeoplasmsEscleroterapiaNeoplasias da PeleTumor Glómico/genéticaTumor Glómico/tratamentoGlomuvenous 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.As malformações glomuvenosas manifestam-se geralmente sob a forma de pápulas, placas ou nódulos azul-violáceos, dérmicos ou subcutâneos, e podem ser esporádicas ou hereditárias. Apresentamos o caso de uma mulher de 41 anos, referenciada para avaliação de um quadro de lesões cutâneas disseminadas, azuladas, com evolução desde a puberdade. O exame histopatológico foi compatível com o diagnóstico de malformações glomuvenosas. A história familiar de uma irmã com lesões semelhantes motivouo 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. A doente foi submetida a escleroterapia com polidocanol, resultando em melhoriassintomática e cosmética muito significativas após seis sessões, sem efeitos adversos e sem recorrência aos 6 meses.Sociedade Portuguesa de Dermatologia e Venereologia2019-10-11T00:00:00Zjournal articleinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://doi.org/10.29021/spdv.77.3.1087oai:ojs.revista.spdv.com.pt:article/1087Journal of the Portuguese Society of Dermatology and Venereology; Vol 77 No 3 (2019): July / September; 249-252Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 77 n. 3 (2019): Julho / Setembro; 249-2522182-24092182-2395reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttps://revista.spdv.com.pt/index.php/spdv/article/view/1087https://doi.org/10.29021/spdv.77.3.1087https://revista.spdv.com.pt/index.php/spdv/article/view/1087/793Gil, FranciscoOrtiz, SantiagoAranha, Joãoinfo:eu-repo/semantics/openAccess2022-10-06T12:35:11Zoai:ojs.revista.spdv.com.pt:article/1087Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:11:10.095915Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report
Escleroterapia no Tratamento de Malformações Glomuvenosas Cutâneas Disseminadas Familiares: Relato de Caso
title Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report
spellingShingle Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report
Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report
Gil, Francisco
Glomus Tumor/genetics
Glomus Tumor/therapy
Sclerotherapy
Skin Neoplasms
Escleroterapia
Neoplasias da Pele
Tumor Glómico/genética
Tumor Glómico/tratamento
Gil, Francisco
Glomus Tumor/genetics
Glomus Tumor/therapy
Sclerotherapy
Skin Neoplasms
Escleroterapia
Neoplasias da Pele
Tumor Glómico/genética
Tumor Glómico/tratamento
title_short Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report
title_full Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report
title_fullStr Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report
Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report
title_full_unstemmed Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report
Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report
title_sort Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report
author Gil, Francisco
author_facet Gil, Francisco
Gil, Francisco
Ortiz, Santiago
Aranha, João
Ortiz, Santiago
Aranha, João
author_role author
author2 Ortiz, Santiago
Aranha, João
author2_role author
author
dc.contributor.author.fl_str_mv Gil, Francisco
Ortiz, Santiago
Aranha, João
dc.subject.por.fl_str_mv Glomus Tumor/genetics
Glomus Tumor/therapy
Sclerotherapy
Skin Neoplasms
Escleroterapia
Neoplasias da Pele
Tumor Glómico/genética
Tumor Glómico/tratamento
topic Glomus Tumor/genetics
Glomus Tumor/therapy
Sclerotherapy
Skin Neoplasms
Escleroterapia
Neoplasias da Pele
Tumor Glómico/genética
Tumor Glómico/tratamento
description 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.
publishDate 2019
dc.date.none.fl_str_mv 2019-10-11T00:00:00Z
dc.type.driver.fl_str_mv journal article
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dc.identifier.uri.fl_str_mv https://doi.org/10.29021/spdv.77.3.1087
oai:ojs.revista.spdv.com.pt:article/1087
url https://doi.org/10.29021/spdv.77.3.1087
identifier_str_mv oai:ojs.revista.spdv.com.pt:article/1087
dc.language.iso.fl_str_mv eng
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dc.relation.none.fl_str_mv https://revista.spdv.com.pt/index.php/spdv/article/view/1087
https://doi.org/10.29021/spdv.77.3.1087
https://revista.spdv.com.pt/index.php/spdv/article/view/1087/793
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dc.publisher.none.fl_str_mv Sociedade Portuguesa de Dermatologia e Venereologia
publisher.none.fl_str_mv Sociedade Portuguesa de Dermatologia e Venereologia
dc.source.none.fl_str_mv Journal of the Portuguese Society of Dermatology and Venereology; Vol 77 No 3 (2019): July / September; 249-252
Revista da Sociedade Portuguesa de Dermatologia e Venereologia; v. 77 n. 3 (2019): Julho / Setembro; 249-252
2182-2409
2182-2395
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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dc.identifier.doi.none.fl_str_mv 10.29021/spdv.77.3.1087