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Ektodermal Displazi’de Doku Malformasyonları, Özellikleri ve Oluşum Oranları

Yıl 2022, Cilt: 19 Sayı: 1, 71 - 76, 28.04.2022
https://doi.org/10.35440/hutfd.1075119

Öz

Amaç: Ektodermal displazi sendromu, doğum öncesi yaşamda ektoderm tabakasından gelişen iki veya daha fazla dokunun anormal gelişimi ile tanımlanan 200’e yakın karmaşık bir genetik bozukluk grubudur.
Bu klinik vaka serisi çalışmasının amacı, ektodermal displazi vakalarının klinik bulgularının görülme sıklıklarını değerlendirmek, farkındalık oluşturmak ve dental yaklaşımlar hakkında bilgi vermektir.
Materyal ve metod: Çalışmada tüm vakalar, tanı için klinik muayeneden geçirildi ve vakalarda tüm major dental ED anomalileri incelendi. Muayenede, çürük dişler, mevcut diş sayısı, diş şekil anomalileri, kafatası, yüz, saç, tırnaklar, cilt, ter bezleri incelendi.
Bulgular: Çalışmada elde edilen klinik bulguların görülme yüzdeleri hakkında bilgi verildi.
Sonuç: Bu gibi çalışmaların dişhekimleri arasında farkındalık oluşturup hastaların yaşam kalitesine katkı sağlayacağı düşünüldü.

Destekleyen Kurum

yok

Proje Numarası

yok

Kaynakça

  • 1. Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Körber I, Wohlfart S, Dick A, et al. Prenatal correction of X-linked hypohidrotic ectodermal dysplasia. New England Journal of Medicine. 2018);378(17):1604-1610.
  • 2. Priolo M. Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. Am J Med Genet A. 2009;149(9):2003-13.
  • 3. Doğan MS, Callea M, Yavuz Ì, Aksoy O, Clarich G, Günay A, et al. An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases. Med Oral Patol Oral Cir Bucal. 2015;20(3):340-6.
  • 4- Valjakova EB, Misevska C, Stevkovska VK, Gigovski N, Ivkovska AS, Bajraktarova B, et al. Prosthodontic management of hypohidrotic ectodermal dysplasia: A case report. S Eur J Orthod Dentofac Res. 2015;2:20–6.
  • 5- Sfeir E, Nassif N, Moukarzel C. Use of mini dental implants in ectodermal dysplasia children: Follow-up of three cases. Eur J Paediatr Dent. 2014;15:207–12.
  • 6- Ladda R, Gangadhar S, Kasat V, Bhandari A. Prosthodontic management of hypohidrotic ectodermal dysplasia with anodontia: A case report in pediatric patient and review of literature. Ann Med Health Sci Res. 2013; 3: 277–81.
  • 7- Doğan MS, Tanık A, Aras A, T0ptancı İR, Arslanoğlu Z, Eratilla V, et al. Ektodermal Displazili Hastalarda Multidisipliner Yaklaşım: 5 Olgu Sunumu. Atatürk Üniv. Diş Hek. Fak. Derg. 2016; 25(13): 10-17.
  • 8- Callea M, Nieminen P, Willoughby CE, Clarich G, Yavuz I, Vinciguerra A, et al. A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family. J Eur Acad Dermatol Venereol. 2016;30: 341–3.
  • 9- Callea M, Teggi R, Yavuz I, Tadini G, Priolo M, Crovella S, et al. Ear nose throat manifestations in hypoidrotic ectodermal dysplasia. Int J Pediatr Otorhinolaryngol. 2013;77: 1801–4.
  • 10- Karadede Ünal BK. Effects of Ectodermal Dysplasia on the Maxilla: A Study of Cone-Beam Computed Tomography. Makara J Health Res. 2021;25(1):8−14.
  • 11- Yavuz I, Baskan Z, Ulku R, Dulgergil TC, Dari O, Ece A, et al. Ectodermal dysplasia: Retrospective study of fifteen cases. Archives of medical research, 2006;37(3), 403-409.
  • 12- Hypodontia MA. Ectodermal dysplasia syndrome with cleft palate, hypodontia, metatarsus adductus and imperforate anus: a new syndrome? Pakistan Oral & Dental Journal, 2013;33(2):219-226
  • 13- Itthagarun A, King NM. Ectodermal dysplasia: A review and case report. Quintessence International, 1997;28(9): 595-602.
  • 14- García-Martín P, Hernández-Martín A, Torrelo A. Ectodermal dysplasias: a clinical and molecular review. Actas Dermosifiliogr. 2013;104(6):451-70.
  • 15- Priolo M, Laganà C. Ectodermal dysplasias: a new clinical-genetic classification. J Med Genet. 2001;38(9):579-85.
  • 16- Itin PH, Fistarol SK. Ectodermal dysplasias. Am J Med Genet C Semin Med Genet. 2004;131(1):45-51.
  • 17- Cantekin K, Delikan E. Ektodermal Displazili Çocuk Hastada Dental Tedavi Yaklaşımı: Bir Olgu Raporu. Atatürk Üniv. Diş Hek. Fak. Derg., 2014;24(3):413-417.
  • 18- Grover R, Mehra M. Prosthodontic Management of Children with Ectodermal Dysplasia: Review of Literature. Dentistry, 2015; 5(340): 2161-1122.
  • 19- Deshmukh S, Prashanth S. Ectodermal dysplasia: A genetic review. Int J Clin Pediatr Dent. 2012;5:197–202.
  • 20- Srivastava VK. Ectodermal dysplasia: A case report. Int J Clin Pediatr Dent. 2011;4:269–70.
  • 21- Patel A, Kshar A, Byakodi R, Paranjpe A, Awale S. Hypohydrotic ectodermal dysplasia: A case report and review. Int J Adv Health Sci. 2014;1:38–42.
  • 22- Doğan MS, Akbaba MH, Yavuz İ, Tanik A, Aras A, Demirci F. et al. Oral reha-bilitation of patients with ectodermal dysplasia: cases series. Int J Health Sci 2016; 4: 59-68.
  • 23- Mikkola M L, Thesleff I. Ectodysplasin signaling in development. Cytokine & growth factor reviews, 14(3-4), 211-224.
  • 24- https://www.nfed.org/learn/types/ (son erişim: 20.06.2021)
  • 25- Nitesh Mohan, P. K. Rathore. Ectodermal dysplasia with classical clinical presentation: A rare case report. IP Journal of Diagnostic Pathology and Oncology 2020;5(4):441–445.
  • 26- Singh P, Warnakulasuriya S. Aplasia of submandibular salivary glands associated with ectodermal dysplasia. Journal of oral pathology & medicine, 2004;33(10): 634-636.
  • 27- Anbouba GM, Carmany EP, Natoli JL. The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X‐linked hypohidrotic ectodermal dysplasia: A systematic review. American Journal of Medical Genetics Part A. 2020; 182(4), 831-841.
  • 28- Özdemir M, B Engin, Baysal İ. Hydrotic ectodermal dysplasia associated with a rib anomaly. Turkiye Klinikleri Journal of Dermatology. 2007;17(3): 205-209.
  • 29- Köymen G, Karaçay Ş, Başak F, Akbulut A E, Altun C. Ektodermal displazi olgusunda kombine dişsel tedavi. Gülhane Tıp Dergisi. 2003; 45(1):79-81.
  • 30- https://edsociety.co.uk/what-is-ed/ (son erişim: 20.06.2021)
  • 31- Elhamouly Y, Dowidar K M. Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: a case report. Special Care in Dentistry. 2019;39(2): 236-240.
  • 32- Chrcanovic BR. Dental implants in patients with ectodermal dysplasia: a systematic review. Journal of Cranio-Maxillofacial Surgery. 2018;46(8): 1211-1217.
  • 33- Doğan MS, Ataş O, Yavuz İ, Tekin S. Ektodermal Displazili Olgularda Klinik ve Radyolojik Bulguların İncelenmesi. Fırat Tıp Dergisi. 2019; 24(2): 85-88.
  • 34- Goker F, Grecchi E, Mancini EG, Del Fabbro M, Grecchi F. Zygomatic implant survival in 9 ectodermal dysplasia patients with 3.5‐to 7‐year follow‐up. Oral Diseases. 2020; 26(8): 1803-1809.
  • 35- Swathi G, Ramesh T, Sravani KB. Ectodermal Dysplasia-a report of two cases. Indian Journal of Clinical Dentistry. 2020; 1(1): 10-13.
  • 36- Bayram M, Seymen F. Dis Çürügüne Genetik Yaklasim/Genetic Approach to Dental Caries. Turkiye Klinikleri. Dishekimligi Bilimleri Dergisi, 2014; 20(2): 129.

Tissue Malformations, Characteristics and Occurrence Rates in Ectodermal Dysplasia

Yıl 2022, Cilt: 19 Sayı: 1, 71 - 76, 28.04.2022
https://doi.org/10.35440/hutfd.1075119

Öz

Background: Ectodermal dysplasia syndrome is a complex group of nearly 200 genetic disorders charac-terized by the abnormal development of two or more tissues that develop from the ectoderm layer in prenatal life.
The aim of this retrospective clinical case series study is to evaluate the frequency of clinical findings of ectodermal dysplasia cases, to raise awareness and to provide information about dental approaches.
Materials and Methods: All of participated cases in the study, underwent a rigorous clinical examination for diagnosis, and all major dental Ectodermal dysplasia anomalies were examined in the cases. In the examination, decayed teeth, number of existing teeth, tooth shape anomalies, skull, face, hair, nails, skin, sweat glands were examined.
Results: Information was given about the percentage of clinical findings obtained in the study.
Conclusions: It was thought that such studies would raise awareness and contribute to the quality of life of the patients.

Proje Numarası

yok

Kaynakça

  • 1. Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Körber I, Wohlfart S, Dick A, et al. Prenatal correction of X-linked hypohidrotic ectodermal dysplasia. New England Journal of Medicine. 2018);378(17):1604-1610.
  • 2. Priolo M. Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. Am J Med Genet A. 2009;149(9):2003-13.
  • 3. Doğan MS, Callea M, Yavuz Ì, Aksoy O, Clarich G, Günay A, et al. An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases. Med Oral Patol Oral Cir Bucal. 2015;20(3):340-6.
  • 4- Valjakova EB, Misevska C, Stevkovska VK, Gigovski N, Ivkovska AS, Bajraktarova B, et al. Prosthodontic management of hypohidrotic ectodermal dysplasia: A case report. S Eur J Orthod Dentofac Res. 2015;2:20–6.
  • 5- Sfeir E, Nassif N, Moukarzel C. Use of mini dental implants in ectodermal dysplasia children: Follow-up of three cases. Eur J Paediatr Dent. 2014;15:207–12.
  • 6- Ladda R, Gangadhar S, Kasat V, Bhandari A. Prosthodontic management of hypohidrotic ectodermal dysplasia with anodontia: A case report in pediatric patient and review of literature. Ann Med Health Sci Res. 2013; 3: 277–81.
  • 7- Doğan MS, Tanık A, Aras A, T0ptancı İR, Arslanoğlu Z, Eratilla V, et al. Ektodermal Displazili Hastalarda Multidisipliner Yaklaşım: 5 Olgu Sunumu. Atatürk Üniv. Diş Hek. Fak. Derg. 2016; 25(13): 10-17.
  • 8- Callea M, Nieminen P, Willoughby CE, Clarich G, Yavuz I, Vinciguerra A, et al. A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family. J Eur Acad Dermatol Venereol. 2016;30: 341–3.
  • 9- Callea M, Teggi R, Yavuz I, Tadini G, Priolo M, Crovella S, et al. Ear nose throat manifestations in hypoidrotic ectodermal dysplasia. Int J Pediatr Otorhinolaryngol. 2013;77: 1801–4.
  • 10- Karadede Ünal BK. Effects of Ectodermal Dysplasia on the Maxilla: A Study of Cone-Beam Computed Tomography. Makara J Health Res. 2021;25(1):8−14.
  • 11- Yavuz I, Baskan Z, Ulku R, Dulgergil TC, Dari O, Ece A, et al. Ectodermal dysplasia: Retrospective study of fifteen cases. Archives of medical research, 2006;37(3), 403-409.
  • 12- Hypodontia MA. Ectodermal dysplasia syndrome with cleft palate, hypodontia, metatarsus adductus and imperforate anus: a new syndrome? Pakistan Oral & Dental Journal, 2013;33(2):219-226
  • 13- Itthagarun A, King NM. Ectodermal dysplasia: A review and case report. Quintessence International, 1997;28(9): 595-602.
  • 14- García-Martín P, Hernández-Martín A, Torrelo A. Ectodermal dysplasias: a clinical and molecular review. Actas Dermosifiliogr. 2013;104(6):451-70.
  • 15- Priolo M, Laganà C. Ectodermal dysplasias: a new clinical-genetic classification. J Med Genet. 2001;38(9):579-85.
  • 16- Itin PH, Fistarol SK. Ectodermal dysplasias. Am J Med Genet C Semin Med Genet. 2004;131(1):45-51.
  • 17- Cantekin K, Delikan E. Ektodermal Displazili Çocuk Hastada Dental Tedavi Yaklaşımı: Bir Olgu Raporu. Atatürk Üniv. Diş Hek. Fak. Derg., 2014;24(3):413-417.
  • 18- Grover R, Mehra M. Prosthodontic Management of Children with Ectodermal Dysplasia: Review of Literature. Dentistry, 2015; 5(340): 2161-1122.
  • 19- Deshmukh S, Prashanth S. Ectodermal dysplasia: A genetic review. Int J Clin Pediatr Dent. 2012;5:197–202.
  • 20- Srivastava VK. Ectodermal dysplasia: A case report. Int J Clin Pediatr Dent. 2011;4:269–70.
  • 21- Patel A, Kshar A, Byakodi R, Paranjpe A, Awale S. Hypohydrotic ectodermal dysplasia: A case report and review. Int J Adv Health Sci. 2014;1:38–42.
  • 22- Doğan MS, Akbaba MH, Yavuz İ, Tanik A, Aras A, Demirci F. et al. Oral reha-bilitation of patients with ectodermal dysplasia: cases series. Int J Health Sci 2016; 4: 59-68.
  • 23- Mikkola M L, Thesleff I. Ectodysplasin signaling in development. Cytokine & growth factor reviews, 14(3-4), 211-224.
  • 24- https://www.nfed.org/learn/types/ (son erişim: 20.06.2021)
  • 25- Nitesh Mohan, P. K. Rathore. Ectodermal dysplasia with classical clinical presentation: A rare case report. IP Journal of Diagnostic Pathology and Oncology 2020;5(4):441–445.
  • 26- Singh P, Warnakulasuriya S. Aplasia of submandibular salivary glands associated with ectodermal dysplasia. Journal of oral pathology & medicine, 2004;33(10): 634-636.
  • 27- Anbouba GM, Carmany EP, Natoli JL. The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X‐linked hypohidrotic ectodermal dysplasia: A systematic review. American Journal of Medical Genetics Part A. 2020; 182(4), 831-841.
  • 28- Özdemir M, B Engin, Baysal İ. Hydrotic ectodermal dysplasia associated with a rib anomaly. Turkiye Klinikleri Journal of Dermatology. 2007;17(3): 205-209.
  • 29- Köymen G, Karaçay Ş, Başak F, Akbulut A E, Altun C. Ektodermal displazi olgusunda kombine dişsel tedavi. Gülhane Tıp Dergisi. 2003; 45(1):79-81.
  • 30- https://edsociety.co.uk/what-is-ed/ (son erişim: 20.06.2021)
  • 31- Elhamouly Y, Dowidar K M. Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: a case report. Special Care in Dentistry. 2019;39(2): 236-240.
  • 32- Chrcanovic BR. Dental implants in patients with ectodermal dysplasia: a systematic review. Journal of Cranio-Maxillofacial Surgery. 2018;46(8): 1211-1217.
  • 33- Doğan MS, Ataş O, Yavuz İ, Tekin S. Ektodermal Displazili Olgularda Klinik ve Radyolojik Bulguların İncelenmesi. Fırat Tıp Dergisi. 2019; 24(2): 85-88.
  • 34- Goker F, Grecchi E, Mancini EG, Del Fabbro M, Grecchi F. Zygomatic implant survival in 9 ectodermal dysplasia patients with 3.5‐to 7‐year follow‐up. Oral Diseases. 2020; 26(8): 1803-1809.
  • 35- Swathi G, Ramesh T, Sravani KB. Ectodermal Dysplasia-a report of two cases. Indian Journal of Clinical Dentistry. 2020; 1(1): 10-13.
  • 36- Bayram M, Seymen F. Dis Çürügüne Genetik Yaklasim/Genetic Approach to Dental Caries. Turkiye Klinikleri. Dishekimligi Bilimleri Dergisi, 2014; 20(2): 129.
Toplam 36 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Klinik Tıp Bilimleri
Bölüm Araştırma Makalesi
Yazarlar

Yasemin Yavuz 0000-0001-5961-4996

Proje Numarası yok
Yayımlanma Tarihi 28 Nisan 2022
Gönderilme Tarihi 17 Şubat 2022
Kabul Tarihi 28 Mart 2022
Yayımlandığı Sayı Yıl 2022 Cilt: 19 Sayı: 1

Kaynak Göster

Vancouver Yavuz Y. Ektodermal Displazi’de Doku Malformasyonları, Özellikleri ve Oluşum Oranları. Harran Üniversitesi Tıp Fakültesi Dergisi. 2022;19(1):71-6.

Harran Üniversitesi Tıp Fakültesi Dergisi  / Journal of Harran University Medical Faculty