Table of Contents

    Topic review

    Ehlers-Danlos Syndromes

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    Submitted by: Marcel Hanisch

    Definition

    Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of hereditary connective tissue disorders involving joint hyperlaxity, cutaneous hyperelasticity, and tissue fragility.

    1. Introduction

    A revised classification containing 13 subtypes was published by the International EDS Consortium, with a number of clinical conditions to guide and improve the diagnosis of each subtype[1]. In the European Union, a disease is considered ‘rare’ if it affects fewer than one in two thousand people[2]. In the case of EDS, the prevalence varies, depending on the type: between 1:30,000 (classical type) and < 1:1,000,000 (arthrochalasia type), whereas for the rarest form (the periodontitis type), the prevalence is unknown[3].

    EDS’ oral conditions have been described as periodontitis[1][4][5], temporomandibular dysfunctions[1][6], bleeding tendencies[7][8], enamel hypoplasia[1][9], shape abnormalities of the teeth and changes in the number of teeth[1][8], a high palate[1][10], dysgnathia, and malocclusion[1][11], as well as decreased effects of local anesthesia[12][13].

    The entry is from 10.3390/medicina56090448

    References

    1. Fransiska Malfait; Clair Francomano; Peter Byers; John Belmont; Britta Berglund; James Black; Lara Bloom; Jessica M. Bowen; Angela F. Brady; Nigel P. Burrows; et al. The 2017 international classification of the Ehlers-Danlos syndromes.. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2017, 175, 8-26, 10.1002/ajmg.c.31552.
    2. Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on OrphanMedical Products. Available online: http://ec.europa.eu/health/files/eudralex/vol-1/reg_2000_141_cons-2009-07/reg_2000_141_cons-2009-07_en.pdf (accessed on 9 February 2018)
    3. The Portal for Rare Diseases and Orphan Drugs. Available online: http://www.orpha.net (accessed on 5 May 2019).
    4. Kapferer-Seebacher, I.; Lundberg, P.; Malfait, F.; Zschocke, J. Periodontal manifestations of Ehlers-Danlossyndromes: A systematic review.J. Clin. Periodontol.2017,44, 1088–1100.
    5. Medicina2020,56, 4488 of 95.Hanisch, M.; Hoffmann, T.; Bohner, L.; Hanisch, L.; Benz, K.; Kleinheinz, J.; Jackowski, J. Rare diseases withperiodontal manifestations.Int. J. Environ. Res. Public Health2019,16, 5.
    6. Peter J. Coster; Luc Martens; Anne Paepe; Oral health in prevalent types of Ehlers-Danlos syndromes. Journal of Oral Pathology & Medicine 2005, 34, 298-307, 10.1111/j.1600-0714.2004.00300.x.
    7. Létourneau, Y.; Pérusse, R.; Buithieu, H. Oral manifestations of Ehlers-Danlos syndrome.J. Can. Dent. Assoc.2001,67, 330–334.
    8. Abel, M.D.; Carrasco, L.R. Ehlers-Danlos syndrome: Classifications, oral manifestations, and dentalconsiderations.Oral Surg. Oral Med. Oral Pathol. Oral Radiol. Endod.2006,102, 582–590.
    9. Daniel H. Cohn; Peter H. Byers; Clinical Screening for Collagen Defects in Connective Tissue Diseases. Clinics in Perinatology 1990, 17, 793-809, 10.1016/s0095-5108(18)30546-3.
    10. Fridrich, K.L.; Fridrich, H.H.; Kempf, K.K.; Moline, D.O. D; ental implications in Ehlers-Danlos syndrome:A case report. Oral Surg. Oral Med. Oral Pathol. 1990, 69, 431–435, .
    11. Kevin A. Winters; Zhijie Jiang; Weihong Xu; Shibo Li; Zineb Ammous; Parul Jayakar; Klaas J. Wierenga; Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome. American Journal of Medical Genetics Part A 2012, 158, 2935-2940, 10.1002/ajmg.a.35613.
    12. Arendt-Nielsen, L.; Kaalund, S.; Bjerring, P.; Høgsaa, B. Insufficient effect of local analgesics in Ehlers Danlostype III patients (connective tissue disorder).Acta Anaesthesiol. Scand.1990,34, 358–361.
    13. Berglund, B.; Nordström, G.; Lützén, K. Living a restricted life with Ehlers-Danlos syndrome (EDS).Int. J.Nurs. Stud.2000,37, 111–118.
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