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      Sturge-Weber syndrome with cemento-ossifying fibroma in the maxilla and giant odontoma in the mandible: A case report

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          Abstract

          Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome with vascular lesions of the cerebral meninges, port wine spots on the face, and glaucoma of the eyes; it is a congenital, non-genetic disease whose etiology and mechanisms are unknown. In this report, we describe a rare case of SWS with unilateral large odontogenic tumors in the maxilla and mandible. The histopathological diagnosis of the maxillary bone lesion on biopsy was juvenile psammomatoid ossifying fibroma, which is considered a type of ossifying fibroma of craniofacial bone origin. However, the final pathological diagnosis of the excision was cemento-ossifying fibroma derived from periodontal ligament cells, and we discuss the histopathology in detail. In addition, the mandibular lesion was one of the largest odontomas reported to date. Furthermore, in this case, we suggest the possibility that the maxillary and mandibular bone lesions are not separate lesions, but a series of lesions related to SWS.

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          Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

          Matthew Shirley, Hao Tang, Carol J Gallione … (2013)
          The Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder characterized by a port-wine stain affecting the skin in the distribution of the ophthalmic branch of the trigeminal nerve, abnormal capillary venous vessels in the leptomeninges of the brain and choroid, glaucoma, seizures, stroke, and intellectual disability. It has been hypothesized that somatic mosaic mutations disrupting vascular development cause both the Sturge-Weber syndrome and port-wine stains, and the severity and extent of presentation are determined by the developmental time point at which the mutations occurred. To date, no such mutation has been identified. We performed whole-genome sequencing of DNA from paired samples of visibly affected and normal tissue from 3 persons with the Sturge-Weber syndrome. We tested for the presence of a somatic mosaic mutation in 97 samples from 50 persons with the Sturge-Weber syndrome, a port-wine stain, or neither (controls), using amplicon sequencing and SNaPshot assays, and investigated the effects of the mutation on downstream signaling, using phosphorylation-specific antibodies for relevant effectors and a luciferase reporter assay. We identified a nonsynonymous single-nucleotide variant (c.548G→A, p.Arg183Gln) in GNAQ in samples of affected tissue from 88% of the participants (23 of 26) with the Sturge-Weber syndrome and from 92% of the participants (12 of 13) with apparently nonsyndromic port-wine stains, but not in any of the samples of affected tissue from 4 participants with an unrelated cerebrovascular malformation or in any of the samples from the 6 controls. The prevalence of the mutant allele in affected tissues ranged from 1.0 to 18.1%. Extracellular signal-regulated kinase activity was modestly increased during transgenic expression of mutant Gαq. The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ. This finding confirms a long-standing hypothesis. (Funded by the National Institutes of Health and Hunter's Dream for a Cure Foundation.).
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            Psammomatoid and trabecular juvenile ossifying fibroma of the craniofacial skeleton: two distinct clinicopathologic entities.

            Samir El Alaoui (2002)
            The term juvenile ossifying fibroma is used in the literature in naming 2 microscopically distinct fibro-osseous lesions of the craniofacial skeleton. One is characterized by small uniform spherical ossicles resembling psammoma bodies (psammomatoid juvenile ossifying fibroma). The other is distinguished by trabeculae of fibrillary osteoid and woven bone (trabecular juvenile ossifying fibroma). Three new cases of each type are reported, and the literature is extensively reviewed for published cases of these 2 entities.Psammomatoid juvenile ossifying fibroma is reported more commonly than trabecular juvenile ossifying fibroma. It affects patients from a wider age range (3 months to 72 years) and an older mean age range (16-33 years) as compared with 2 to 12 years and 8(1/2) to 12 years, respectively, for trabecular juvenile ossifying fibroma. In both types there is a slight male predominance and the lesions are unencapsulated and tend to infiltrate adjacent bone. A significant difference between the 2 tumors is their site of occurrence. Although psammomatoid juvenile ossifying fibroma occurs predominantly in the sinonasal and orbital bones, trabecular juvenile ossifying fibroma predominantly affects the jaws. Aggressive growth occurs in some-but not all-cases of both types. Such behavior may be related to younger patient age and the concurrent development of aneurysmal bone cysts, which is seen more frequently in psammomatoid juvenile ossifying fibroma. This study demonstrates that not only histologic but also demographic and clinical differences between psammomatoid juvenile ossifying fibroma and trabecular juvenile ossifying fibroma warrant their classification as 2 distinct clinicopathologic entities.
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              Neurocutaneous syndromes.

              E E Roach (1992)
              Many of the neurocutaneous disorders are more common than once suspected, in part because patients with milder forms of the disorders are now more likely to be recognized. Improved diagnostic studies and increasingly specific medical and surgical therapy allow some previously untreatable complications to be successfully managed. Genetic linkage analysis has localized the abnormal gene for some of the hereditary neurocutaneous disorders onto specific chromosomes, and newly developed clinical diagnostic criteria have improved our ability to establish a definite diagnosis in less obvious patients. Thus, the outlook for these patients is no longer uniformly pessimistic.
              Article 0 comments Cited 28 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Aki Sato
                Journal
                Journal ID (nlm-ta): Heliyon
                Journal ID (iso-abbrev): Heliyon
                Title: Heliyon
                Publisher: Elsevier
                ISSN (Electronic): 2405-8440
                Publication date PMC-release: 15 April 2024
                Publication date Collection: 30 April 2024
                Publication date (Electronic): 15 April 2024
                Volume: 10
                Issue: 8
                Electronic Location Identifier: e29445
                Affiliations
                [a ]Department of Dentistry and Oral Surgery, Hiroshima City Hiroshima Citizens Hospital, Hiroshima, Japan
                [b ]Department of Pathology, Hiroshima City Hiroshima Citizens Hospital, Hiroshima, Japan
                [c ]Department of Oral and Maxillofacial Pathobiology, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan
                [d ]Department of Oral and Maxillofacial Surgery, Wakayama Medical University, Wakayama, Japan
                [e ]Department of Dentistry, Kurashiki Central Hospital, Okayama, Japan
                [f ]Department of Oral and Maxillofacial Reconstructive Surgery, Okayama University Hospital, Okayama, Japan
                [g ]Department of Oral and Maxillofacial Reconstructive Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan
                Author notes
                [* ]Corresponding author. 7-33 Motomachi, Naka-ku, Hiroshima, Hiroshima, p/o 730-8518,Japan. akisato@ 123456city-hosp.naka.hiroshima.jp
                Article
                Publisher Item ID: S2405-8440(24)05476-8 Publisher ID: e29445
                DOI: 10.1016/j.heliyon.2024.e29445
                PMC ID: 11040041
                PubMed ID: 38660248
                SO-VID: dd78a7fa-ff3c-4e4d-a3e7-22ec09726dcc
                Copyright © © 2024 The Author(s)
                License:

                This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

                History
                Date received : 23 November 2023
                Date revision received : 5 April 2024
                Date accepted : 8 April 2024
                Categories
                Subject: Case Report

                Data availability:

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