Multiple odontogenic keratocysts in Ehlers–Danlos syndrome: a rare case report

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Abstract

Background

An odontogenic keratocyst is a lesion characterized by aggressive and infiltrative growth. The lesion is characterized by the existence of satellite microcysts (microtumours) and frequent recurrence (up to 30%). Ehlers–Danlos syndrome is a condition in which collagen production or its post-translational modifications are affected. Defects in connective tissues cause symptoms, which range from mild joint hypermobility to life-threatening complications.

Case presentation

We present an extremely rare case of an 11-year old girl with Ehlers–Danlos syndrome and coexistence of multiple odontogenic keratocysts.

Conclusions

This case shows mainly atypical or rare association between multiple odontogenic keratocysts and Ehlers–Danlos syndrome.

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Most cited references 28

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The 2017 international classification of the Ehlers-Danlos syndromes.

Fransiska Malfait, Clair Francomano, Peter K. Byers … (2017)

The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes. © 2017 Wiley Periodicals, Inc.

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Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.

Brad T Tinkle, Marco Castori, Britta Berglund … (2017)

The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder. © 2017 Wiley Periodicals, Inc.

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New tumour entities in the 4th edition of the World Health Organization Classification of Head and Neck tumours: odontogenic and maxillofacial bone tumours

Paul M Speight, Takashi Takata (2017)

The latest (4th) edition of the World Health Organization Classification of Head and Neck tumours has recently been published with a number of significant changes across all tumour sites. In particular, there has been a major attempt to simplify classifications and to use defining criteria which can be used globally in all situations, avoiding wherever possible the use of complex molecular techniques which may not be affordable or widely available. This review summarises the changes in Chapter 8: Odontogenic and maxillofacial bone lesions. The most significant change is the re-introduction of the classification of the odontogenic cysts, restoring this books status as the only text which classifies and defines the full range of lesions of the odontogenic tissues. The consensus group considered carefully the terminology of lesions and were concerned to ensure that the names used properly reflected the best evidence regarding the true nature of specific entities. For this reason, this new edition restores the odontogenic keratocyst and calcifying odontogenic cyst to the classification of odontogenic cysts and rejects the previous terminology (keratocystic odontogenic tumour and calcifying cystic odontogenic tumour) which were intended to suggest that they are true neoplasms. New entities which have been introduced include the sclerosing odontogenic carcinoma and primordial odontogenic tumour. In addition, some previously poorly defined lesions have been removed, including the ameloblastic fibrodentinoma, ameloblastic fibro-odontoma, which are probably developing odontomas, and the odontoameloblastoma, which is not regarded as an entity. Finally, the terminology “cemento” has been restored to cemento-ossifying fibroma and cemento-osseous dysplasias, to properly reflect that they are of odontogenic origin and are found in the tooth-bearing areas of the jaws.

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Author and article information

Contributors

Anna Starzyńska:

ORCID: http://orcid.org/0000-0001-6900-0429

ast@gumed.edu.pl , anna.starzynska@gumed.edu.pl

Paulina Adamska: paulina.adamska@gumed.edu.pl

Łukasz Adamski: lukasz.adamski@gumed.edu.pl

Aleksandra Sejda: aleksandra.sejda@uwm.edu.pl

Piotr Wychowański: piotrwychowanski@wychowanski.pl

Michał Studniarek: michal.studniarek@gumed.edu.pll

Barbara Alicja Jereczek-Fossa: barbara.jereczek@ieo.it

Journal

Journal ID (nlm-ta): BMC Oral Health

Journal ID (iso-abbrev): BMC Oral Health

Title: BMC Oral Health

Publisher: BioMed Central (London )

ISSN (Electronic): 1472-6831

Publication date (Electronic): 9 March 2021

Publication date PMC-release: 9 March 2021

Publication date Collection: 2021

Volume: 21

Electronic Location Identifier: 107

Affiliations

[1 ]GRID grid.11451.30, ISNI 0000 0001 0531 3426, Department of Oral Surgery, , Medical University of Gdańsk, ; 7 Dębinki Street, 80-211 Gdańsk, Poland

[2 ]GRID grid.412607.6, ISNI 0000 0001 2149 6795, Department of Pathomorphology, , University of Warmia and Mazury, ; 18 Żołnierska Street, 10-561 Olsztyn, Poland

[3 ]GRID grid.13339.3b, ISNI 0000000113287408, Department of Oral Surgery, , Medical University of Warsaw, ; 6 St. Biniecki Street, 02-097 Warsaw, Poland

[4 ]GRID grid.11451.30, ISNI 0000 0001 0531 3426, Department of Radiology I, , Medical University of Gdańsk, ; 17 Smoluchowskiego Street, 80-216 Gdańsk, Poland

[5 ]GRID grid.414603.4, Division of Radiotherapy, , IEO European Institute of Oncology, IRCCS, ; 435 Ripamonti Street, 20-141 Milan, Italy

[6 ]GRID grid.4708.b, ISNI 0000 0004 1757 2822, Department of Oncology and Hemato-Oncology, , University of Milan, ; 7 Festa del Perdono Street, 20-112 Milan, Italy

Author information

Anna Starzyńska http://orcid.org/0000-0001-6900-0429

Article

Publisher ID: 1472

DOI: 10.1186/s12903-021-01472-9

PMC ID: 7941700

PubMed ID: 33750365

SO-VID: 7fe1855b-da38-4642-ae85-87d84bb5b6f3

License:

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

History

Date received : 4 August 2020

Date accepted : 1 March 2021

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ScienceOpen disciplines: Dentistry

Keywords: ehlers–danlos syndrome,odontogenic keratocysts,dentigerous cyst,paediatric dentistry,case report

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ScienceOpen disciplines: Dentistry

Keywords: ehlers–danlos syndrome, odontogenic keratocysts, dentigerous cyst, paediatric dentistry, case report

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Multiple odontogenic keratocysts in Ehlers–Danlos syndrome: a rare case report

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Abstract

Background

Case presentation

Conclusions

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Most cited references 28

The 2017 international classification of the Ehlers-Danlos syndromes.

Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.

New tumour entities in the 4th edition of the World Health Organization Classification of Head and Neck tumours: odontogenic and maxillofacial bone tumours

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