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

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 plexiformneurofibromas. 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.

Multidisciplinary team for patients with neurocutaneous syndromes: The little discussed importance of dentistry

“…In this sense, the literature has emphatically highlighted the importance of involving different medical specialties in the multidisciplinary approach to such patients. 1 , 2 However, thinking about holistic care and better outcomes, other health fields and in particular dentistry should also be essential to be included as part of such teams. Although the role and difficulties faced by dentistry in the management of patients with the most prevalent neurological disorders have already been addressed in the literature, 3 , 4 there is still very little discussion involving specific subgroups.…”

“…Among the diseases within this classification, the two most common are Neurofibromatosis type 1 (NF1) and Tuberous Sclerosis Complex (TSC). 1 , 5…”

“…In addition to individual clinical experience, recent and robust evidence and reports of institutional experience have suggested different positive impacts of specialized dental care for neurological patients, whether in an outpatient 3 or hospital setting 4 In the context of patients with neurocutaneous syndromes, such benefits may be impactful as related conditions requiring this type of specialized management can be alternatively or concomitantly present, including and not only restricted to craniofacial defects, dental and oral anomalies but also neurocognitive alterations. 1 Based on these perspectives, dentistry can play an important role in improving the quality of life, contributing to the prevention of further damage, while allowing a faster recovery with better outcomes. 4 , 18 , 19 …”

“…At the outpatient level, the simultaneous presence of neurocognitive disabilities in these patients should always be taken into consideration in the management of oral healthcare. Indeed, apart from the more common expected complications like caries lesion, periodontal and endodontic problems, 4 other more specific associated disorders and anomalies including important occlusal problems, 20 and intraoral fibromas and dental enamel pits 1 , 21 (which are among the criteria for diagnosis of Neurofibromatosis type 1 and Tuberous Sclerosis Complex (TSC) – Table 1 ) may increase the likelihood for patients with neurocutaneous syndromes to autonomously perform inadequate oral hygiene, exposing them excessively to unnecessary and preventable risks.…”

“…This may have an increased impact on more severe cases requiring surgery and hospitalization. 1 At the hospital level, the dental assessment and/or dental follow-up of hospitalized patients is essential, especially in intensive care units. 19 Based on the advances of dentistry aimed at the specialized care for patients with special needs, which includes neurological patients, the authors created a flowchart of a schematic representation of the different levels of dental practice towards the comprehensive care of patients with neurocutaneous syndromes ( Fig.…”