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CC BY-NC-ND 4.0 · J Lab Physicians 2015; 7(02): 131-133
DOI: 10.4103/0974-2727.163139
Case Report

Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia

Panduranga Chikkannaiah
Department of Pathology, Employees’ State Insurance Corporation Medical College and PGIMSR, Bengaluru, India
,
Smitha Nagaraju
Department of Pathology, Jawaharlal Nehru Medical College, KLE University, Belgaum, Karnataka, India
,
Rajit Kangle
Department of Pathology, Jawaharlal Nehru Medical College, KLE University, Belgaum, Karnataka, India
,
Mansi Gosavi
Department of Pathology, Jawaharlal Nehru Medical College, KLE University, Belgaum, Karnataka, India
› Institutsangaben Source of Support: Nil.
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ABSTRACT

Ectodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-linked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia.

Keywords

De novo - ectodermal dysplasia - fetal autopsy - hypohidrotic - oligodontia - trichodysplasia


Publikationsverlauf

Artikel online veröffentlicht:
19. April 2020

© 2015.

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  • REFERENCES

  • 1 Bani M, Tezkirecioglu AM, Akal N, Tuzuner T. Ectodermal dysplasia with anodontia: A report of two cases. Eur J Dent 2010;4:215-22.
  • 2 Johnson AW, Abdulkarim AA, Adedoyin OT, Adegboye AO, Amole AO. Anhidrotic ectodermal dysplasia: A case report in a Nigerian child and literature review. Niger J Paediatr 2012;39:79-83.
  • 3 Ghosh S, Ghosh E, Dayal S. Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity. Indian J Dermatol 2014;59:422.
  • 4 Deshmukh S, Prashanth S. Ectodermal dysplasia: A genetic review. Int J Clin Pediatr Dent 2012;5:197-202.
  • 5 Kerr CB, Wells RS, Cooper KE. Gene effect in carriers of anhidrotic ectodermal dysplasia. J Med Genet 1966;3:169-76.
  • 6 Mahajan VK, Sharma NL, Sood A. The ectodermal dysplasia: Severe palmoplanter hyperkeratosis and chronic angular chelitis. Indian J Dermatol 2003;48:223-8.
  • 7 Muthu MS, Sivakumar N, editors. Genetic aspects of dental anomalies. Paediatric Dentistry Principles and Practice. 2nd ed. New Delhi: Elsevier; 2011.
  • 8 Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, et al.X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996;13:409-16.
  • 9 Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet 1999;22:366-9.
  • 10 Straface G, Selmin A, Zanardo V, De Santis M, Ercoli A, Scambia G. Herpes simplex virus infection in pregnancy. Infect Dis Obstet Gynecol 2012;2012:385697.
  • 11 Li M, Urmacher CD. Normal skin. In: Milles SE, editor. Histology for Pathologist. 3rd ed. Philadelphia, Lippincott Williams & Wilkins, 2007. p. 4-9.
  • 12 Sivakumar N, Muthu MS. Develoupmental of dentition and occlusion. In: Muthu MS, Sivakumar N, editors. Paediatric Dentistry Principles and Practice. 2nd ed. New Delhi: Elsevier 2009. p. 58-62.
  • 13 Itthagarun A, King NM. Ectodermal dysplasia: A review and case report. Quintessence Int 1997;28:595-602.
  • 14 Wright JT, Grange DK, Richter MK. Hypohidrotic ectodermal dysplasia. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, et al., editors. GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/pubmed. [Last assessed on 2014 Oct 15].