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Title: | Síndrome de Gorlin-Goltz: Diagnóstico e hipóteses de tratamento | Other Titles: | Gorlin-Goltz syndrome: Diagnosis and treatment options | Authors: | Mendes-Abreu, João Pinto-Gouveia, Miguel Tavares-Ferreira, Cátia Brinca, Ana Vieira, Ricardo |
Keywords: | Síndrome do Nevo Basocelular/diagnóstico; Síndrome do Nevo Basocelular/tratamento; Basal Cell Nevus Syndrome/diagnosis; Basal Cell Nevus Syndrome/therapy | Issue Date: | 31-May-2017 | Publisher: | Ordem dos Medicos | Serial title, monograph or event: | Acta Medica Portuguesa | Volume: | 30 | Issue: | 5 | Abstract: | A síndrome de Gorlin-Goltz é uma patologia hereditária, rara, autossómica dominante de penetrância completa, com expressividade
variável. Caracterizada pelo aparecimento de múltiplos basaliomas, cursa, frequentemente, com o desenvolvimento de queratoquistos.
Depressões palmares/plantares, calcificações da foice cerebral, anomalias esqueléticas congénitas, constituem, igualmente, critérios
de diagnóstico, embora menos frequentes. Este artigo expõe dois casos clínicos, envolvendo familiares diretos, referenciados
após identificação de vários basaliomas e quistos maxilares. Estabelecido o diagnóstico, perante a identificação de três critérios major,
o tratamento consistiu na excisão das lesões, seguida, num dos casos, da terapêutica com vismodegib, com remissão completa. A
síndrome de Gorlin-Goltz é, assim, um desafio multidisciplinar, cuja morbilidade variável e o elevado risco de recorrência tornam fundamental
o tratamento e vigilância. Contudo, o aparecimento de novas terapêuticas moleculares dirigidas trazem uma nova esperança
no tratamento destes doentes The Gorlin-Goltz syndrome is a rare autosomal dominant hereditary condition, with complete penetrance and variable expressivity. Characterized by the appearance of multiple basaliomas, and often the development of keratocyst, it can also express itself by the presence of palmar/plantar depressions, calcification of brain sickle, and skeletal birth defects, although less frequently. This article presents two cases involving direct relatives, referred after the identification of several basaliomas and jaw cysts. After establishing the diagnosis, given the identification of three major criteria, the treatment consisted in the excision of the lesions followed, in one case, with vismodegib treatment resulting in complete remission. Gorlin-Goltz syndrome is therefore a multidisciplinary challenge, whose variable morbidity and high risk of recurrence make treatment and surveillance critical. However, new molecular targeted therapies have brought a new hope in treating these patients. |
URI: | https://hdl.handle.net/10316/108082 | ISSN: | 1646-0758 0870-399X |
DOI: | 10.20344/amp.7521 | Rights: | openAccess |
Appears in Collections: | FMUC Medicina - Artigos em Revistas Nacionais |
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File | Description | Size | Format | |
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GorlinGoltz-syndrome-Diagnosis-and-treatment-optionsActa-Medica-Portuguesa.pdf | 1.85 MB | Adobe PDF | View/Open |
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