Sclerotherapy in the Treatment of Familial Disseminated Cutaneous Glomuvenous Malformations: Case Report
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , |
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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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 info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
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 |
language |
eng |
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 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
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 reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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 |
repository.mail.fl_str_mv |
|
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1822183343868870656 |
dc.identifier.doi.none.fl_str_mv |
10.29021/spdv.77.3.1087 |