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Hypohidrotic ectodermal dysplasia: A case report

Year 2007, Volume: 38 Issue: 1, 31 - 33, 01.02.2007

Abdülkadir Bozaykut Lale Pulat Seren Dilşat Koca Rabia Gönül Sezer İlke Özahi İpek

Abstract

A three day old term male infant was admitted to hospital with high fever. There were sparse hair, absence of eyebrows, atipic facial appearance and dry skin in his physical examination. Hypohidrotic (anhidrotic) ectodermal dysplasia considered with these symptoms was confirmed by skin biopsy showing the hypoplasia of sweat glands.

Keywords

Abnormalities Multiple Ectodermal Dysplasia Infant Newborn Male Fever

References

  • 1. Behrman RE, Kliegman RM, Arvin AM. Nelson Textbook of Pediatrics. 15th ed. Philadelphia: W.B. Saunders Company,1996: 837
  • 2. Kere J, Sriastava AK, Montenon O, et al. Xlinked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996.13:409- 416
  • 3 . Darwin C. The Variations of Animals and Plants under Domestication. London, Murray,1875:319
  • 4 . Dhanrajani PI, Jiffiy AO. Management of Ectodermal Dysplasia. A Literature Review
  • Dental Update 1998;53.153-62
  • 5 . Pinheiro M, Freire-Maia N. Ectodermal dysplasias. A clinical classification and casual review. Am J Med Genet 1994.53:143-52
  • 6. Plattova-PuechI, CombazardF. Hypohidrotic ectodermal dysplasia. Ann Dermatol Venerol 2002:129:1276-85
  • 7 . Kere J, Grzeschik KH, Limon J, et al
  • Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes. Genomic 1993:16:305-10
  • 8 . Richard AS, Karin V, Gerard K, Caries B, Kourjiarn J. Placement of an endosseous implant in a growing child with ectodermal dysplasia
  • Oral Surg, Oral Med, Oral Pathol 1993:5 :669- 73
  • 9 . Naeem M, Muhammad D, Ahmad W. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. Br J Dermatol 2005:153:46-50
  • 10.TaşkınN. Ve ark., 'Yenidoğanda Nadir Bir Ateş Nedeni: Hipohidrotik Ektodermdi Displazi', istanbul Tıp Dergisi, 2004 :2 ; 45-47
  • 11.RiedlerJ. Congenital anhidrotic ectodermal dysplasia in a female infant. Monatsscher Kinderheilkd. 1992:140:398-400
  • 12 .Clarke A, Philips DI, Brown R, Harper PS. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987: 62:989-96
  • 13. Altun, S., Ş. Altun, İ. Yavuz ve S. Agüloğlu, "Ektodermal Displazi: 3 Vaka Raporu", Türkiye Klinikleri Diş Hekimliği Bilimleri Dergisi, 2001: 7,154-160.

Hipohidrotik ektodermal displazi: Bir olgu bildirisi

Year 2007, Volume: 38 Issue: 1, 31 - 33, 01.02.2007

Abdülkadir Bozaykut Lale Pulat Seren Dilşat Koca Rabia Gönül Sezer İlke Özahi İpek

Abstract

Üç günlük erkek hasta hastanemize ateş şikayeti ile başvurdu. Fizik muayenesinde saçlarında azalma, kaşların yokluğu, atipik yüz görünümü, derisinde kuruluk olduğu farkedildi. Bu bulgularla hastada hipohidrotik (anhidrotik) ektodermal displazi düşünüldü. Yapılan deri biyopsisinde hipoplazik ter bezi saptanarak olgumuza hipohidrotik ektodermal displazi tanısı konuldu.

Keywords

Anomaliler çoklu Ektodermal displazi Süt çocuğu yenidoğan Erkek Ateş

References

  • 1. Behrman RE, Kliegman RM, Arvin AM. Nelson Textbook of Pediatrics. 15th ed. Philadelphia: W.B. Saunders Company,1996: 837
  • 2. Kere J, Sriastava AK, Montenon O, et al. Xlinked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996.13:409- 416
  • 3 . Darwin C. The Variations of Animals and Plants under Domestication. London, Murray,1875:319
  • 4 . Dhanrajani PI, Jiffiy AO. Management of Ectodermal Dysplasia. A Literature Review
  • Dental Update 1998;53.153-62
  • 5 . Pinheiro M, Freire-Maia N. Ectodermal dysplasias. A clinical classification and casual review. Am J Med Genet 1994.53:143-52
  • 6. Plattova-PuechI, CombazardF. Hypohidrotic ectodermal dysplasia. Ann Dermatol Venerol 2002:129:1276-85
  • 7 . Kere J, Grzeschik KH, Limon J, et al
  • Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes. Genomic 1993:16:305-10
  • 8 . Richard AS, Karin V, Gerard K, Caries B, Kourjiarn J. Placement of an endosseous implant in a growing child with ectodermal dysplasia
  • Oral Surg, Oral Med, Oral Pathol 1993:5 :669- 73
  • 9 . Naeem M, Muhammad D, Ahmad W. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. Br J Dermatol 2005:153:46-50
  • 10.TaşkınN. Ve ark., 'Yenidoğanda Nadir Bir Ateş Nedeni: Hipohidrotik Ektodermdi Displazi', istanbul Tıp Dergisi, 2004 :2 ; 45-47
  • 11.RiedlerJ. Congenital anhidrotic ectodermal dysplasia in a female infant. Monatsscher Kinderheilkd. 1992:140:398-400
  • 12 .Clarke A, Philips DI, Brown R, Harper PS. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987: 62:989-96
  • 13. Altun, S., Ş. Altun, İ. Yavuz ve S. Agüloğlu, "Ektodermal Displazi: 3 Vaka Raporu", Türkiye Klinikleri Diş Hekimliği Bilimleri Dergisi, 2001: 7,154-160.
There are 16 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Abdülkadir Bozaykut This is me

Lale Pulat Seren This is me

Dilşat Koca This is me

Rabia Gönül Sezer This is me

İlke Özahi İpek This is me

Publication Date February 1, 2007
Published in Issue Year 2007 Volume: 38 Issue: 1

Cite

APA Bozaykut, A., Seren, L. P., Koca, D., Sezer, R. G., et al. (2007). Hipohidrotik ektodermal displazi: Bir olgu bildirisi. Zeynep Kamil Tıp Bülteni, 38(1), 31-33. https://doi.org/10.16948/zktb.57658
AMA Bozaykut A, Seren LP, Koca D, Sezer RG, İpek İÖ. Hipohidrotik ektodermal displazi: Bir olgu bildirisi. Zeynep Kamil Tıp Bülteni. February 2007;38(1):31-33. doi:10.16948/zktb.57658
Chicago Bozaykut, Abdülkadir, Lale Pulat Seren, Dilşat Koca, Rabia Gönül Sezer, and İlke Özahi İpek. “Hipohidrotik Ektodermal Displazi: Bir Olgu Bildirisi”. Zeynep Kamil Tıp Bülteni 38, no. 1 (February 2007): 31-33. https://doi.org/10.16948/zktb.57658.
EndNote Bozaykut A, Seren LP, Koca D, Sezer RG, İpek İÖ (February 1, 2007) Hipohidrotik ektodermal displazi: Bir olgu bildirisi. Zeynep Kamil Tıp Bülteni 38 1 31–33.
IEEE A. Bozaykut, L. P. Seren, D. Koca, R. G. Sezer, and İ. Ö. İpek, “Hipohidrotik ektodermal displazi: Bir olgu bildirisi”, Zeynep Kamil Tıp Bülteni, vol. 38, no. 1, pp. 31–33, 2007, doi: 10.16948/zktb.57658.
ISNAD Bozaykut, Abdülkadir et al. “Hipohidrotik Ektodermal Displazi: Bir Olgu Bildirisi”. Zeynep Kamil Tıp Bülteni 38/1 (February 2007), 31-33. https://doi.org/10.16948/zktb.57658.
JAMA Bozaykut A, Seren LP, Koca D, Sezer RG, İpek İÖ. Hipohidrotik ektodermal displazi: Bir olgu bildirisi. Zeynep Kamil Tıp Bülteni. 2007;38:31–33.
MLA Bozaykut, Abdülkadir et al. “Hipohidrotik Ektodermal Displazi: Bir Olgu Bildirisi”. Zeynep Kamil Tıp Bülteni, vol. 38, no. 1, 2007, pp. 31-33, doi:10.16948/zktb.57658.
Vancouver Bozaykut A, Seren LP, Koca D, Sezer RG, İpek İÖ. Hipohidrotik ektodermal displazi: Bir olgu bildirisi. Zeynep Kamil Tıp Bülteni. 2007;38(1):31-3.