Publication
Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal.
| dc.contributor.author | Rebelo, Mafalda | |
| dc.contributor.author | Francisco, Telma | |
| dc.contributor.author | Perry da Câmara, Rosário | |
| dc.contributor.author | Pereira, Andreia | |
| dc.contributor.author | Iraneta, Amets | |
| dc.contributor.author | Amorim, Marta | |
| dc.contributor.author | Paiva Lopes, Maria João | |
| dc.contributor.author | Lopes da Silva, Rita | |
| dc.contributor.author | Cordeiro, Ana Isabel | |
| dc.date.accessioned | 2025-06-12T12:22:10Z | |
| dc.date.available | 2025-06-12T12:22:10Z | |
| dc.date.issued | 2024-03-01 | |
| dc.description.abstract | Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS. Methods: Retrospective analysis of 281 patients enrolled in the MOCND over the first five years of activity (October 2016 to December 2021), reviewing genetics, family history, clinical features, complications, and therapeutic strategies for NF1 and TSC. Results: The clinic works weekly with a core team of pediatricians and pediatric neurologists supported by other specialties as needed. Of the 281 patients enrolled, 224 (79.7%) had identifiable syndromes such as NF1 (n = 105), TSC (n = 35), hypomelanosis of Ito (n = 11), Sturge-Weber syndrome (n = 5), and others. In NF1 patients, 41.0% had a positive family history, all manifested café-au-lait macules, 38.1% neurofibromas with 45.0% being large plexiform neurofibromas. Sixteen were under treatment with selumetinib. Genetic testing was performed in 82.9% of TSC patients with pathogenic variants found in TSC2 gene in 72.4% patients (82.7% if considered contiguous gene syndrome). Family history was positive in 31.4%. All TSC patients presented hypomelanotic macules and fulfilled diagnostic criteria. Fourteen patients were being treated with mTOR inhibitors. Conclusion: Offering a systematic and multidisciplinary approach to NCS patients enables timely diagnosis, promotes a structured follow-up, and encourages discussion to outline management plans for optimal care to every patient, with significant impact on the quality of life of patients and families. | eng |
| dc.description.abstract | Introdução: As doenças neurocutâneas (DNC) são um grupo heterogéneo de patologias com envolvimento multiorgânico e manifestações diversasque evoluem ao longo da vida, com morbilidade significativa. Tem sido preconizada uma abordagem multidisciplinar destes doentes, contudo o modelo ideal não está ainda estabelecido. Este trabalho tem como objetivos 1) descrever a organização da recém-criada Consulta Multidisciplinar de Doenças Neurocutâneas (CMDNC) de um hospital pediátrico terciário em Portugal; 2) partilhar a experiência institucional, focando as patologias mais comuns, neurofibromatose tipo 1 (NF1) e complexo esclerose tuberosa (CET); e 3) analisar as vantagens de um centro e abordagem multidisciplinares nas DNC. Métodos: Análise retrospetiva dos 281 doentes acompanhados na CMDNC durante os primeiros cinco anos de funcionamento (outubro 2016 a dezembro 2021), com revisão da genética, história familiar, manifestações clínicas, complicações e estratégias terapêuticas dos doentes com NF1 e CET. Resultados: A CMDNC funciona semanalmente com um pediatra e um neuropediatra, com apoio de outras especialidades sempre que necessário. Dos 281 doentes acompanhados, 224 (79,7%) têm síndromes identificados, como NF1 (n = 105), CET (n = 35), hipomelanose de Ito (n = 11), síndrome de Sturge-Weber (n = 5), e outras. Dos doentes com NF1, 41,0% têm história familiar positiva, todos apresentavam manchas ‘café com leite’, 38,1% neurofibromas, dos quais 45,0% com grandes neurofibromas plexiformes. Dezasseis estavam sob tratamento com selumetinib. Foi realizado estudo genético em 82,9% dos doentes com CET, com variantes patogénicas identificadas no gene TSC2 em 72,4% (82,7% se considerado síndrome de genes contíguos). Em 31,4% havia história familiar positiva. Todos os doentes com CET apresentaram máculas hipomelanocíticas e cumpriam critérios diagnósticos. Catorze doentes estavam sob tratamento com inibidores mTOR. Conclusão: Oferecer uma abordagem sistematizada e multidisciplinar nas DNC possibilita um diagnóstico atempado, promove um acompanhamento estruturado, e favorece a discussão para delinear um plano de cuidados adequado, com impacto significativo na qualidade de vida dos doentes e famílias. | por |
| dc.identifier.citation | Acta Med Port . 2024 Mar 1;37(3):187-197 | |
| dc.identifier.doi | 10.20344/amp.19063 | |
| dc.identifier.other | 37294265 | |
| dc.identifier.uri | http://hdl.handle.net/10400.17/5107 | |
| dc.language.iso | en | |
| dc.peerreviewed | yes | |
| dc.publisher | Centro Editor Livreiro da Ordem dos Médicos | |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | |
| dc.subject | Child | |
| dc.subject | Hospital | |
| dc.subject | Neurocutaneous Syndromes/diagnosis | |
| dc.subject | Neurocutaneous Syndromes/genetics | |
| dc.subject | Neurofibromatoses 1 | |
| dc.subject | Outpatient Clinics | |
| dc.subject | Tuberous Sclerosis | |
| dc.title | Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal. | eng |
| dc.title.alternative | Consulta Multidisciplinar de Doenças Neurocutâneas: Experiência de Cinco Anos num Hospital Pediátrico Terciário em Portugal | por |
| dc.type | text | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 197 | |
| oaire.citation.issue | 3 | |
| oaire.citation.startPage | 187 | |
| oaire.version | http://purl.org/coar/version/c_970fb48d4fbd8a85 |