国际口腔医学杂志 ›› 2022, Vol. 49 ›› Issue (6): 737-742.doi: 10.7518/gjkq.2022091

• 综述 • 上一篇    

外胚叶发育不良综合征口腔临床诊疗的研究进展

朱星蓉1,2(),廖岚1()   

  1. 1.南昌大学附属口腔医院修复科;江西省口腔生物医学重点实验室;江西省口腔疾病临床医学研究中心 南昌 330006
    2.襄阳市口腔医院修复科 襄阳 441000
  • 收稿日期:2022-01-15 修回日期:2022-05-16 出版日期:2022-11-01 发布日期:2022-11-03
  • 通讯作者: 廖岚
  • 作者简介:朱星蓉,硕士,Email:2296971592@qq.com

Research progress on oral clinical diagnosis and treatment of ectodermal dysplasia syndrome

Zhu Xingrong1,2(),Liao Lan1()   

  1. 1.Dept. of Prosthodontics, Affiliated Stomatological Hospital of Nanchang University, Key Laboratory of Oral Biomedicine in Jiangxi Province, Jiangxi Province Clinical Research Center for Oral Disease, Nanchang 330006, China
    2.Dept. of Prosthodontics, Stomatological Hospital of Xiangyang, Xiangyang 441000, China
  • Received:2022-01-15 Revised:2022-05-16 Online:2022-11-01 Published:2022-11-03
  • Contact: Lan Liao

摘要:

外胚叶发育不良综合征(EDs)是一类口腔先天性发育不良疾病的总称,表现为由外胚叶发育而来的多种组织包括毛发、指甲、牙齿、汗腺等发育不良。EDs常严重影响此类患者生长发育和身心健康。因此,对该类疾病进行早期诊断并及时治疗尤为重要。本文旨在对EDs口腔临床诊疗的研究进展作一综述,以期为口腔临床医生提供参考。

关键词: 外胚叶发育不良综合征, 临床分类, 疾病诊断, 治疗

Abstract:

Ectodermal dysplasia syndrome (EDs) is a general term of oral congenital dysplasia, and it is often characte-rized by dysplasia of various tissues developed from the ectodermal lobes, including hair, nails, teeth, and sweat glands. It often seriously affects the growth, development, physical, and mental health of these patients. Therefore, the early diagnosis and timely treatment of these diseases are particularly important. The purpose of this paper was to review the research progress of the clinical diagnosis and treatment of EDs to provide reference for oral clinicians.

Key words: ectodermal dysplasia syndrome, clinical classification, disease diagnosis, treatment

中图分类号: 

  • R 44
1 Dawkins HJS, Draghia-Akli R, Lasko P, et al. Progress in rare diseases research 2010-2016: an IRDiRC perspective[J]. Clin Transl Sci, 2018, 11(1): 11-20.
2 郑雪妮, 段小红. 口腔罕见病与遗传病生物样本库的建立与完善[J]. 实用口腔医学杂志, 2016, 32(6): 773-777.
Zheng XN, Duan XH. Development of a biobank of oral rare diseases and genetic diseases[J]. J Pract Stomatol, 2016, 32(6): 773-777.
3 James W, Berger T, Elston D. Andrews’ diseases of the skin: clinical dermatology[M]. 12th ed. Philadelphia: Elsevier, 2016: 573-582.
4 Itin PH. Etiology and pathogenesis of ectodermal dysplasias[J]. Am J Med Genet A, 2014, 164A(10): 2472-2477.
5 Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, et al. Hypohidrotic ectodermal dysplasia: cli-nical and molecular review[J]. Int J Dermatol, 2018, 57(8): 965-972.
6 Huang SX, Liang JL, Sui WG, et al. EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature[J]. Genet Mol Res, 2015, 14(3): 10344-10351.
7 Pozo-Molina G, Reyes-Reali J, Mendoza-Ramos MI, et al. Novel missense mutation in the EDA1 gene identified in a family with hypohidrotic ectodermal dysplasia[J]. Int J Dermatol, 2015, 54(7): 790-794.
8 Clarke A, Phillips DI, Brown R, et al. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia[J]. Arch Dis Child, 1987, 62(10): 989-996.
9 Sun JH, Chen L, Han S, et al. Characterization of a novel gross deletion and insertion mutation in EDA gene causing hypohidrotic ectodermal dysplasia[J]. J Dermatol, 2021, 48(1): e29-e30.
10 Podzus J, Kowalczyk-Quintas C, Schuepbach-Mallepell S, et al. Ectodysplasin A in biological fluids and diagnosis of ectodermal dysplasia[J]. J Dent Res, 2017, 96(2): 217-224.
11 Liu YT, Guo K, Li J, et al. Novel mutations in GJB6 and GJB2 in Clouston syndrome[J]. Clin Exp Dermatol, 2015, 40(7): 770-773.
12 Shi X, Li D, Chen M, et al. GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family[J]. Int J Dermatol, 2019, 58(12): 1462-1465.
13 Zhan Y, Luo S, Pi ZX, et al. A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia[J]. Hereditas, 2020, 157(1): 34.
14 Wright JT, Fete M, Schneider H, et al. Ectodermal dysplasias: classification and organization by phenotype, genotype and molecular pathway[J]. Am J Med Genet A, 2019, 179(3): 442-447.
15 Deshmukh S, Prashanth S. Ectodermal dysplasia: a genetic review[J]. Int J Clin Pediatr Dent, 2012, 5(3): 197-202.
16 Basu S, Mitra M, Ghosh A. Evaluation of sweat production by pilocarpine iontophoresis: a noninvasive screening tool for hypohidrosis in ectodermal dysplasia[J]. Indian J Clin Biochem, 2013, 28(4): 433-435.
17 Doğan MS, Callea M, Yavuz Ì, et al. An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia ca-ses[J]. Med Oral Patologia Oral Y Cirugia Bucal, 2015, 20(3): e340-e346.
18 Wünsche S, Jüngert J, Faschingbauer F, et al. Noninvasive prenatal diagnosis of hypohidrotic ectodermal dysplasia by tooth germ sonography[J]. Ultraschall Der Medizin, 2015, 36(4): 381-385.
19 Schnabl D, Grunert I, Schmuth M, et al. Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: a systematic review[J]. J Oral Rehabil, 2018, 45(7): 555-570.
20 Ding ML, Fan Y, Qin M, et al. Facial morphological changes following denture treatment in children with hypohidrotic ectodermal dysplasia[J]. Pediatr Dent, 2020, 42(4): 315-320.
21 Klineberg I, Cameron A, Whittle T, et al. Rehabilitation of children with ectodermal dysplasia. Part 1: an international Delphi study[J]. Int J Oral Maxillofac Implants, 2013, 28(4): 1090-1100.
22 杨杰, 赵玉鸣, 葛立宏. 恒牙胚缺失动物模型的建立及相应乳牙牙根的吸收[J]. 北京大学学报(医学版), 2008, 40(1): 60-63.
Yang J, Zhao YM, Ge LH. Establishment of permanent tooth germ missing animal model and study on root resorption of the corresponding deciduous teeth[J]. J Peking Univ (Health Sci), 2008, 40(1): 60-63.
23 Rockman RA, Hall KB, Fiebiger M. Magnetic retention of dental prostheses in a child with ectodermal dysplasia[J]. J Am Dent Assoc, 2007, 138(5): 610-615.
24 van Waas MA, Jonkman RE, Kalk W, et al. Diffe-rences two years after tooth extraction in mandibular bone reduction in patients treated with immediate overdentures or with immediate complete dentures[J]. J Dent Res, 1993, 72(6): 1001-1004.
25 Al Nuaimi R, Mansoor M. Prosthetic rehabilitation with fixed prosthesis of a 5-year-old child with Hypohidrotic Ectodermal Dysplasia and Oligodontia: a case report[J]. J Med Case Rep, 2019, 13(1): 329.
26 Barrow GV, White JR. Developmental changes of the maxillary and mandibular dental arches[J]. Angle Orthod, 1952, 22(1): 41-46.
27 Yalcin ED, Koparal M, Aksoy O. The effect of ectodermal dysplasia on volume and surface area of maxillary sinus[J]. Eur Arch Oto Rhino Laryngol, 2018, 275(12): 2991-2996.
28 Ioannidou-Marathiotou I, Kotsiomiti E, Gioka C. The contribution of orthodontics to the prosthodontic treatment of ectodermal dysplasia: a long-term clinical report[J]. J Am Dent Assoc, 2010, 141(11): 1340-1345.
29 Celli D, Manente A, Grippaudo C, et al. Interceptive treatment in ectodermal dysplasia using an innovative orthodontic/prosthetic modular appliance. A case report with 10- year follow-up[J]. Eur J Paediatr Dent, 2018, 19(4): 307-312.
30 Sfeir E, Nahass MG, Mourad A. Evaluation of masticatory stimulation effect on the maxillary transversal growth in ectodermal dysplasia children[J]. Int J Clin Pediatr Dent, 2017, 10(1): 55-61.
31 Kearns G, Sharma A, Perrott D, et al. Placement of endosseous implants in children and adolescents with hereditary ectodermal dysplasia[J]. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 1999, 88(1): 5-10.
32 Toomarian L, Ardakani MR, Ramezani J, et al. U-sing implants for prosthodontic rehabilitation of a 4-year-old with ectodermal dysplasia[J]. Gen Dent, 2014, 62(5): e1-e5.
33 Chrcanovic BR. Dental implants in patients with ectodermal dysplasia: a systematic review[J]. J Craniomaxillofac Surg, 2018, 46(8): 1211-1217.
34 Terheyden H, Wüsthoff F. Occlusal rehabilitation in patients with congenitally missing teeth-dental implants, conventional prosthetics, tooth autotransplants, and preservation of deciduous teeth-a systematic review[J]. Int J Implant Dent, 2015, 1(1): 30.
35 Machado M, Wallace C, Austin B, et al. Rehabilitation of ectodermal dysplasia patients presenting with hypodontia: outcomes of implant rehabilitation part 1[J]. J Prosthodont Res, 2018, 62(4): 473-478.
36 Aydinbelge M, Gumus HO, Sekerci AE, et al. Implants in children with hypohidrotic ectodermal dysplasia: an alternative approach to esthetic management: case report and review of the literature[J]. Pediatr Dent, 2013, 35(5): 441-446.
37 Yenisey M, Guler A, Unal U. Orthodontic and prosthodontic treatment of ectodermal dysplasia-a case report[J]. Br Dent J, 2004, 196(11): 677-679.
38 Bayat M, Khobyari MM, Dalband M, et al. Full mouth implant rehabilitation of a patient with ectodermal dysplasia after orthognathic surgery, sinus and ridge augmentation: a clinical report[J]. J Adv Prosthodont, 2011, 3(2): 96-100.
39 Wang Y, He J, Decker AM, et al. Clinical outcomes of implant therapy in ectodermal dysplasia patients: a systematic review[J]. Int J Oral Maxillofac Surg, 2016, 45(8): 1035-1043.
40 Cao J, Zhou W, Shen S, et al. Implant-supported provisional prosthesis facilitated the minor revision of occlusion and incisor exposure after orthognathic surgery of extended oligodontia in maxilla[J]. J Dent Sci, 2021, 16(1): 544-548.
41 Goyal M, Pradhan G, Gupta S, et al. Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: a rare presentation[J]. Contemp Clin Dent, 2015, 6(1): 110-112.
42 Gonzaga LH, Amorim KP, Sesma N, et al. Interdisciplinary rehabilitation of a patient with ectodermal dysplasia utilizing digital tools: a clinical report[J]. J Prosthet Dent, 2022, 127(5): 675-679.
43 Punj A, Kattadiyil MT. Management of ectodermal dysplasia with tooth-supported computer-engineered complete overdentures: a clinical report[J]. J Prosthet Dent, 2019, 121(2): 195-199.
44 Murashima-Suginami A, Kiso H, Tokita Y, et al. Anti-USAG-1 therapy for tooth regeneration through enhanced BMP signaling[J]. Sci Adv, 2021, 7(7): eabf-1798.
45 Casal ML, Lewis JR, Mauldin EA, et al. Significant correction of disease after postnatal administration of recombinant ectodysplasin a in canine X-linked ectodermal dysplasia[J]. Am J Hum Genet, 2007, 81(5): 1050-1056.
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