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The four case report with hypohidrotic ectodermal dysplasia: Christ-Siemens-Touraine Sendromu

Yıl 2007, Cilt: 12 Sayı: 4, 315 - 319, 01.08.2007

Öz

Ectodermal dysplasia is a group of familial disorders affecting tissues and organs of ectodermal origin. Ectodermal dysplasias are divided into two groups as hidrotic and anhidrotic/hypohidrotic. Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. For that reason, we report four girls patients came to our clinic with complaints, such as having very little hair since birth, difficulty in hair growth and easy hair loss. The fact who was kept away from hot mediums and who were observed with artificial tears against cornea damage was significant in that it is seen in girls rarely. ©2007, Fırat Üniversity, Medical Faculty

Kaynakça

  • Palit A, Inamadar AC. What syndrome is this? Christ-Siemens- Touraine dysplasia. Pediatr Dermatol 2006; 23: 396-398. ectodermal
  • Segurado Rodriguez MA, Ortiz De Frutos FJ, Cornejo Navarro P, et al. Hypohidrotic ectodermal dysplasia: A cause of fever of unknown origin. An Esp Pediatr 2002; 56: 253-257.
  • Clarke A, Phillips DI, Brown R, Harper PS. Clinical aspects of X- linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987; 62: 989-996.
  • Vargas GA, Fantino E, George-Nascimento C, Gargus JJ, Haigler HT. Reduced Epidermal Growth Factor Receptor Expression in Hypohidrotic Ectodermal Dysplasia and Tabby Mice. J Clin Invest 1996; 97: 2426-2432.
  • Ayşe Berna Anıl, Işıl Yücesoy, Gülseran Arslan, Özem Arıdaşır, Gönül Aydoğan. Ektodermal displazi. Göztepe Tıp Dergisi 2003; 18: 126-128.
  • Fazilet Karakoç, Gökhan Baysoy, Bülent Karadağ, Abdullah Bereketi, Elif Dağlı. Ektrodaktili ektodermal displazi-clefting sendromuna eşlik eden bir trakeal bronkus olgusu. Türk Pediatri Arşivi 2001; 36: 75-78.
  • Sinha V, Sinha S. Anhidrotic ectodermal dysplasia presenting as atrophic rhinitis and maggots. Indian Pediatrics 2003; 40: 1105- 1106.
  • Kerr CB, Well RS, Cooper KE. Gene effect in carriers of anhidrotic ectodermal dysplasia. J Med Gen 1966; 3: 169-170.
  • Zonana J. Hypohidrotic (anhidrotic) ectodermal dysplasia: molecular genetic research and its clinical applications. Semin Dermatol 1993; 12: 241-246.
  • Mehmet Yıldırım, Vahide Baysal, Özden Çandır. Anhidrotik ektodermal displazi (olgu raporu). Türkiye Klinikleri Tıp Bilimleri Dergisi 2000; 20: 366-368.
  • Baer ST, Coulson IH, Elliman D. Anhidrotic ectodermal dysplasia: ENT presentation in infancy. J Laryngol Otol 1988; 102: 458-459.
  • Sachidananda R, Nagadi A, Dass AA, Praveen Kmar BY. Anhidrotic ectodermal dysplasia presenting as atrophic rhinitis. J Laryngol Otol 2004; 118: 556-557.
  • Günseli Köymen, Şeniz Karaçay, Feridun Başak, A Erman Akbulut, Ceyhan Altun. Ektodermal displazi olgusunda kombine dişsel tedavi. Gülhane Tıp Dergisi 2003; 45: 79-81.
  • Yavuz I, Baskan Z, Ulku R, ve ark. Ectodermal dysplasia: Retrospective study of fifteen cases. Arch Med Res 2006; 37: 403-409.
  • Zonana J, Clarke A, Sarfarazi M, et al. X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. Am J Hum Genet 1988; 43: 75-85.
  • Naeem M, Jelani M, Lee K, et al. Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12- q21.2. Br J Dermatol. 2006; 155: 1184-1190.
  • Zonana J, Jones M, Browne D, et al. High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. Am J Hum Genet 1992; 51: 1036-1046.
  • Zonana J, Elder ME, Schneider LC, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK (NEMO). Am J Hum Genet 2000; 67: 1555-1562.
  • Carrol, ED, Gennery AR, Flood TJ, Spickett GP, Abinun M. Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO. Arch Dis Child 2003; 88: 340-341.
  • Doffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-B signaling. Nat Genet 2001; 27: 277-287.
  • Thomas C, Suranyi E, Pride H, Tyler W. A child with hypohidrotic ectodermal dysplasia with Dai YS, Liang MG, Gellis SE, Bonilla FA, Schneider LC, Geha RS, Orange JS. Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-kappaB essential modulator mutation, with or without ectodermal dysplasia. J Am Acad Dermatol 2004; 51: 718-722.
  • Courtois G, Smahi A, Reichenbach J, et al. A hypermorphic IB mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. Clin Invest 2003; 112: 1108-1115.
  • Hobkirk JA, Nohl F, Bergendal B, Storhaug K, Richter MK. The management of ectodermal dysplasia and severe hypodontia. International conference statements. J Oral Rehabil 2006; 33: 634-637.
  • Kabul Tarihi: 08.03.2007

Hipohidrotik Ektodermal Displazi Tanılı Dört Olgu Sunumu: Christ-Siemens-Touraine Sendromu

Yıl 2007, Cilt: 12 Sayı: 4, 315 - 319, 01.08.2007

Öz

Ektodermal displazi ektodermal orjinli doku ve organları etkileyen bir belirtiler grubudur. Ektodermal displaziler hidrotik ve anhidrotik/hipohidrotik olarak ikiye ayrılırlar. Hipotrikoz, anodonti ve anhidroz triadı olan az görülen bir tablodur. Bu nedenle sunmak istediğimiz dört kız hasta; doğumdan itibaren saçlarının seyrek olması, zor uzaması ve kolay dökülmesi yakınmaları ile başvurdu. Sıcak ortamlardan uzak tutulup, kornea zedelenmesine karşı yapay gözyaşı ile izlenen olguların; kızlarda daha az görülmesi yönüyle de sunulması dikkat çekicidir. ©2007, Fırat Üniversitesi, Tıp Fakültesi

Kaynakça

  • Palit A, Inamadar AC. What syndrome is this? Christ-Siemens- Touraine dysplasia. Pediatr Dermatol 2006; 23: 396-398. ectodermal
  • Segurado Rodriguez MA, Ortiz De Frutos FJ, Cornejo Navarro P, et al. Hypohidrotic ectodermal dysplasia: A cause of fever of unknown origin. An Esp Pediatr 2002; 56: 253-257.
  • Clarke A, Phillips DI, Brown R, Harper PS. Clinical aspects of X- linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987; 62: 989-996.
  • Vargas GA, Fantino E, George-Nascimento C, Gargus JJ, Haigler HT. Reduced Epidermal Growth Factor Receptor Expression in Hypohidrotic Ectodermal Dysplasia and Tabby Mice. J Clin Invest 1996; 97: 2426-2432.
  • Ayşe Berna Anıl, Işıl Yücesoy, Gülseran Arslan, Özem Arıdaşır, Gönül Aydoğan. Ektodermal displazi. Göztepe Tıp Dergisi 2003; 18: 126-128.
  • Fazilet Karakoç, Gökhan Baysoy, Bülent Karadağ, Abdullah Bereketi, Elif Dağlı. Ektrodaktili ektodermal displazi-clefting sendromuna eşlik eden bir trakeal bronkus olgusu. Türk Pediatri Arşivi 2001; 36: 75-78.
  • Sinha V, Sinha S. Anhidrotic ectodermal dysplasia presenting as atrophic rhinitis and maggots. Indian Pediatrics 2003; 40: 1105- 1106.
  • Kerr CB, Well RS, Cooper KE. Gene effect in carriers of anhidrotic ectodermal dysplasia. J Med Gen 1966; 3: 169-170.
  • Zonana J. Hypohidrotic (anhidrotic) ectodermal dysplasia: molecular genetic research and its clinical applications. Semin Dermatol 1993; 12: 241-246.
  • Mehmet Yıldırım, Vahide Baysal, Özden Çandır. Anhidrotik ektodermal displazi (olgu raporu). Türkiye Klinikleri Tıp Bilimleri Dergisi 2000; 20: 366-368.
  • Baer ST, Coulson IH, Elliman D. Anhidrotic ectodermal dysplasia: ENT presentation in infancy. J Laryngol Otol 1988; 102: 458-459.
  • Sachidananda R, Nagadi A, Dass AA, Praveen Kmar BY. Anhidrotic ectodermal dysplasia presenting as atrophic rhinitis. J Laryngol Otol 2004; 118: 556-557.
  • Günseli Köymen, Şeniz Karaçay, Feridun Başak, A Erman Akbulut, Ceyhan Altun. Ektodermal displazi olgusunda kombine dişsel tedavi. Gülhane Tıp Dergisi 2003; 45: 79-81.
  • Yavuz I, Baskan Z, Ulku R, ve ark. Ectodermal dysplasia: Retrospective study of fifteen cases. Arch Med Res 2006; 37: 403-409.
  • Zonana J, Clarke A, Sarfarazi M, et al. X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. Am J Hum Genet 1988; 43: 75-85.
  • Naeem M, Jelani M, Lee K, et al. Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12- q21.2. Br J Dermatol. 2006; 155: 1184-1190.
  • Zonana J, Jones M, Browne D, et al. High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. Am J Hum Genet 1992; 51: 1036-1046.
  • Zonana J, Elder ME, Schneider LC, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK (NEMO). Am J Hum Genet 2000; 67: 1555-1562.
  • Carrol, ED, Gennery AR, Flood TJ, Spickett GP, Abinun M. Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO. Arch Dis Child 2003; 88: 340-341.
  • Doffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-B signaling. Nat Genet 2001; 27: 277-287.
  • Thomas C, Suranyi E, Pride H, Tyler W. A child with hypohidrotic ectodermal dysplasia with Dai YS, Liang MG, Gellis SE, Bonilla FA, Schneider LC, Geha RS, Orange JS. Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-kappaB essential modulator mutation, with or without ectodermal dysplasia. J Am Acad Dermatol 2004; 51: 718-722.
  • Courtois G, Smahi A, Reichenbach J, et al. A hypermorphic IB mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. Clin Invest 2003; 112: 1108-1115.
  • Hobkirk JA, Nohl F, Bergendal B, Storhaug K, Richter MK. The management of ectodermal dysplasia and severe hypodontia. International conference statements. J Oral Rehabil 2006; 33: 634-637.
  • Kabul Tarihi: 08.03.2007
Toplam 24 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

Saadet Akarsu Bu kişi benim

Özlem Elkıran Bu kişi benim

İsmail Şengül Bu kişi benim

Ceren Kara Bu kişi benim

Başak Kandi Coşkun Bu kişi benim

Bengü Çobanoğlu Bu kişi benim

Yayımlanma Tarihi 1 Ağustos 2007
Yayımlandığı Sayı Yıl 2007 Cilt: 12 Sayı: 4

Kaynak Göster

APA Akarsu, S., Elkıran, Ö., Şengül, İ., Kara, C., vd. (2007). Hipohidrotik Ektodermal Displazi Tanılı Dört Olgu Sunumu: Christ-Siemens-Touraine Sendromu. Fırat Tıp Dergisi, 12(4), 315-319.
AMA Akarsu S, Elkıran Ö, Şengül İ, Kara C, Coşkun BK, Çobanoğlu B. Hipohidrotik Ektodermal Displazi Tanılı Dört Olgu Sunumu: Christ-Siemens-Touraine Sendromu. Fırat Tıp Dergisi. Ağustos 2007;12(4):315-319.
Chicago Akarsu, Saadet, Özlem Elkıran, İsmail Şengül, Ceren Kara, Başak Kandi Coşkun, ve Bengü Çobanoğlu. “Hipohidrotik Ektodermal Displazi Tanılı Dört Olgu Sunumu: Christ-Siemens-Touraine Sendromu”. Fırat Tıp Dergisi 12, sy. 4 (Ağustos 2007): 315-19.
EndNote Akarsu S, Elkıran Ö, Şengül İ, Kara C, Coşkun BK, Çobanoğlu B (01 Ağustos 2007) Hipohidrotik Ektodermal Displazi Tanılı Dört Olgu Sunumu: Christ-Siemens-Touraine Sendromu. Fırat Tıp Dergisi 12 4 315–319.
IEEE S. Akarsu, Ö. Elkıran, İ. Şengül, C. Kara, B. K. Coşkun, ve B. Çobanoğlu, “Hipohidrotik Ektodermal Displazi Tanılı Dört Olgu Sunumu: Christ-Siemens-Touraine Sendromu”, Fırat Tıp Dergisi, c. 12, sy. 4, ss. 315–319, 2007.
ISNAD Akarsu, Saadet vd. “Hipohidrotik Ektodermal Displazi Tanılı Dört Olgu Sunumu: Christ-Siemens-Touraine Sendromu”. Fırat Tıp Dergisi 12/4 (Ağustos 2007), 315-319.
JAMA Akarsu S, Elkıran Ö, Şengül İ, Kara C, Coşkun BK, Çobanoğlu B. Hipohidrotik Ektodermal Displazi Tanılı Dört Olgu Sunumu: Christ-Siemens-Touraine Sendromu. Fırat Tıp Dergisi. 2007;12:315–319.
MLA Akarsu, Saadet vd. “Hipohidrotik Ektodermal Displazi Tanılı Dört Olgu Sunumu: Christ-Siemens-Touraine Sendromu”. Fırat Tıp Dergisi, c. 12, sy. 4, 2007, ss. 315-9.
Vancouver Akarsu S, Elkıran Ö, Şengül İ, Kara C, Coşkun BK, Çobanoğlu B. Hipohidrotik Ektodermal Displazi Tanılı Dört Olgu Sunumu: Christ-Siemens-Touraine Sendromu. Fırat Tıp Dergisi. 2007;12(4):315-9.