Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome
Abstract Background Sturge–Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation,...
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2025-01-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-024-03527-w |
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| author | May El Hachem Andrea Diociaiuti Angela Galeotti Francesca Grussu Elena Gusson Alessandro Ferretti Carlo Efisio Marras Davide Vecchio Simona Cappelletti Mariasavina Severino Carlo Gandolfo Simone Reali Rosa Longo Carmen D’Amore Lodovica Gariazzo Federica Marraffa Marta Luisa Ciofi Degli Atti Maria Margherita Mancardi and the Sturge-Weber Syndrome Multidisciplinary Group |
| author_facet | May El Hachem Andrea Diociaiuti Angela Galeotti Francesca Grussu Elena Gusson Alessandro Ferretti Carlo Efisio Marras Davide Vecchio Simona Cappelletti Mariasavina Severino Carlo Gandolfo Simone Reali Rosa Longo Carmen D’Amore Lodovica Gariazzo Federica Marraffa Marta Luisa Ciofi Degli Atti Maria Margherita Mancardi and the Sturge-Weber Syndrome Multidisciplinary Group |
| author_sort | May El Hachem |
| collection | DOAJ |
| description | Abstract Background Sturge–Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc. An early diagnosis is crucial to guarantee an appropriate care, which is best performed in reference centres by multidisciplinary teams. The aim of this study was to develop a multidisciplinary expert consensus for diagnosis, treatment, and follow-up of all disease manifestations, according to the recommendations of the Italian Law on Rare Disease Care. Results Through a Delphi consensus methodology, 28 recommendations have been developed concerning (i) dermatological SWS manifestations and related treatment timing and modalities, (ii) neurological referral, diagnosis, pharmacological treatment of neurological signs and symptoms, neurosurgical indications, neurocognitive evaluation and related treatment, psychosocial support and patient follow-up, (iii) diagnosis of ophthalmological manifestations, medical and surgical treatment, and follow-up, (iv) maxillofacial surgical treatment, (v) oral cavity assessment, care and follow-up, and (vi) primary care paediatrician/general practitioner involvement. Conclusions The present consensus developed by a multidisciplinary group of experts from Italian reference centres comprises practical recommendations for SWS global management, including currently controversial issues. Specific statements for all disease aspects, from skin manifestations and neurological and ocular signs and symptoms to oral and maxillofacial care, are provided. They can be exploited to uniform clinical practice in reference centres, but also in other hospitals and outpatient settings. Though this consensus has been developed taking primarily into account the Italian National Health System organization and rules on rare disorders, it could be translated also to other countries. |
| format | Article |
| id | doaj-art-fe98745fcede4d0584b684a28dd0cc77 |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-fe98745fcede4d0584b684a28dd0cc772025-01-19T12:38:27ZengBMCOrphanet Journal of Rare Diseases1750-11722025-01-0120112010.1186/s13023-024-03527-wMultidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndromeMay El Hachem0Andrea Diociaiuti1Angela Galeotti2Francesca Grussu3Elena Gusson4Alessandro Ferretti5Carlo Efisio Marras6Davide Vecchio7Simona Cappelletti8Mariasavina Severino9Carlo Gandolfo10Simone Reali11Rosa Longo12Carmen D’Amore13Lodovica Gariazzo14Federica Marraffa15Marta Luisa Ciofi Degli Atti16Maria Margherita Mancardi17and the Sturge-Weber Syndrome Multidisciplinary GroupDermatology Unit, Genodermatosis Research Unit, Translational Paediatrics and Clinical Genetics Research Area, Bambino Gesù Children’s Hospital, IRCCSDermatology Unit, Genodermatosis Research Unit, Translational Paediatrics and Clinical Genetics Research Area, Bambino Gesù Children’s Hospital, IRCCSDentistry Unit, Clinical Outcomes and Pathways Research UnitClinical Management and Technological Innovations Research Area, Bambino Gesù Children’s Hospital, IRCCSPlastic and Maxillofacial Surgery Unit, Technologic Innovations in Plastic Surgery Research Unit, Clinical Management and Technological Innovations Research Area, Bambino Gesù Children’s Hospital, IRCCSOphthalmic Unit, Department of Surgical Odontostomatological Maternal and Child Sciences, Integrated University Hospital of VeronaNeurology, Epilepsy and Movement Disorders Unit, Neurology and Neurosurgery Research Unit, Translational Paediatrics and Clinical Genetics Research Area, Bambino Gesù Children’s Hospital, IRCCSNeurosurgery Unit and Neurology and Neurosurgery Research Unit, Clinical Management and Technological Innovations Research Area, Bambino Gesù Children’s Hospital, IRCCSRare Diseases and Medical Genetics Unit and Chromosomal Disorders and Dysmorphology Research Unit, Translational Paediatrics and Clinical Genetics Research Area, Bambino Gesù Children’s Hospital, IRCSSNeurology, Epilepsy and Movement Disorders Unit, Neurology and Neurosurgery Research Unit, Translational Paediatrics and Clinical Genetics Research Area, Bambino Gesù Children’s Hospital, IRCCSNeuroradiology Unit, IRCCS Istituto Giannina GasliniFunctional and Interventional Neuroradiology Unit and Multimodal Imaging Research Unit, Clinical Management and Technological Innovations Research Area, Bambino Gesù Children’s Hospital IRCCSDepartment of Anaesthesia and Critical Care and Clinical Outcomes and Pathways Research UnitClinical Management and Technological Innovations Research Area, Bambino Gesù Children’s Hospital, IRCCSOphthalmic Unit, Department of Surgical Odontostomatological Maternal and Child Sciences, Integrated University Hospital of VeronaEpidemiology, Clinical Pathways and Clinical Risk Unit, Medical Direction; Clinical Outcomes and Pathways Research UnitClinical Management and Technological Innovations Research Area, Bambino Gesù Children’s Hospital, IRCCSDermatology Department and Angioma Center, IRCCS Istituto Giannina GasliniDermatology Unit, Genodermatosis Research Unit, Translational Paediatrics and Clinical Genetics Research Area, Bambino Gesù Children’s Hospital, IRCCSEpidemiology, Clinical Pathways and Clinical Risk Unit, Medical Direction; Clinical Outcomes and Pathways Research UnitClinical Management and Technological Innovations Research Area, Bambino Gesù Children’s Hospital, IRCCSChild Neuropsychiatry Unit, IRCCS Istituto Giannina GasliniAbstract Background Sturge–Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc. An early diagnosis is crucial to guarantee an appropriate care, which is best performed in reference centres by multidisciplinary teams. The aim of this study was to develop a multidisciplinary expert consensus for diagnosis, treatment, and follow-up of all disease manifestations, according to the recommendations of the Italian Law on Rare Disease Care. Results Through a Delphi consensus methodology, 28 recommendations have been developed concerning (i) dermatological SWS manifestations and related treatment timing and modalities, (ii) neurological referral, diagnosis, pharmacological treatment of neurological signs and symptoms, neurosurgical indications, neurocognitive evaluation and related treatment, psychosocial support and patient follow-up, (iii) diagnosis of ophthalmological manifestations, medical and surgical treatment, and follow-up, (iv) maxillofacial surgical treatment, (v) oral cavity assessment, care and follow-up, and (vi) primary care paediatrician/general practitioner involvement. Conclusions The present consensus developed by a multidisciplinary group of experts from Italian reference centres comprises practical recommendations for SWS global management, including currently controversial issues. Specific statements for all disease aspects, from skin manifestations and neurological and ocular signs and symptoms to oral and maxillofacial care, are provided. They can be exploited to uniform clinical practice in reference centres, but also in other hospitals and outpatient settings. Though this consensus has been developed taking primarily into account the Italian National Health System organization and rules on rare disorders, it could be translated also to other countries.https://doi.org/10.1186/s13023-024-03527-wSturge–Weber syndromeCapillary malformationPulsed dye laserGlaucomaEpilepsyIntellectual disability |
| spellingShingle | May El Hachem Andrea Diociaiuti Angela Galeotti Francesca Grussu Elena Gusson Alessandro Ferretti Carlo Efisio Marras Davide Vecchio Simona Cappelletti Mariasavina Severino Carlo Gandolfo Simone Reali Rosa Longo Carmen D’Amore Lodovica Gariazzo Federica Marraffa Marta Luisa Ciofi Degli Atti Maria Margherita Mancardi and the Sturge-Weber Syndrome Multidisciplinary Group Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome Orphanet Journal of Rare Diseases Sturge–Weber syndrome Capillary malformation Pulsed dye laser Glaucoma Epilepsy Intellectual disability |
| title | Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome |
| title_full | Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome |
| title_fullStr | Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome |
| title_full_unstemmed | Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome |
| title_short | Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome |
| title_sort | multidisciplinary multicenter consensus for the care of patients affected with sturge weber syndrome |
| topic | Sturge–Weber syndrome Capillary malformation Pulsed dye laser Glaucoma Epilepsy Intellectual disability |
| url | https://doi.org/10.1186/s13023-024-03527-w |
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