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Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-Year Experience of a Pediatric Tertiary Hospital in Portugal

2024Journal article Open access
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dc.contributor.authorRebelo, M
dc.contributor.authorFrancisco, T
dc.contributor.authorPerry da Câmara, R
dc.contributor.authorPereira, A
dc.contributor.authorIraneta, A
dc.contributor.authorAmorim, M
dc.contributor.authorPaiva Lopes, MJ
dc.contributor.authorLopes da Silva, R
dc.contributor.authorCordeiro, AI
dc.date.accessioned2024-03-06T14:52:03Z
dc.date.available2024-03-06T14:52:03Z
dc.date.issued2024
dc.description.abstractIntroduction: 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationActa Med Port . 2024 Mar 1;37(3):187-197pt_PT
dc.identifier.doi10.20344/amp.19063pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/4822
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherCentro Editor Livreiro da Ordem dos Médicospt_PT
dc.subjectAmbulatory Care Facilitiespt_PT
dc.subjectChildpt_PT
dc.subjectHumanspt_PT
dc.subjectNeurocutaneous Syndromes* / diagnosispt_PT
dc.subjectNeurocutaneous Syndromes* / therapypt_PT
dc.subjectNeurofibromatosis 1* / therapypt_PT
dc.subjectPortugalpt_PT
dc.subjectQuality of Lifept_PT
dc.subjectRetrospective Studiespt_PT
dc.subjectTertiary Care Centerspt_PT
dc.subjectHDE PEDpt_PT
dc.subjectHDE DERpt_PT
dc.subjectHDE NEU PEDpt_PT
dc.subjectHDE NCIRpt_PT
dc.subjectHDE GENpt_PT
dc.subjectHDE NEF PEDpt_PT
dc.titleMultidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-Year Experience of a Pediatric Tertiary Hospital in Portugalpt_PT
dc.title.alternativeConsulta Multidisciplinar de Doenças Neurocutâneas: Experiência de Cinco Anos num Hospital Pediátrico Terciário em Portugalpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage197pt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage187pt_PT
oaire.citation.titleActa Médica Portuguesapt_PT
oaire.citation.volume37pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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