Ectodermal Dysplasia with Bilateral Punctal Agenesis in a Nigerian Child: A Case Report


  • JFA Owoeye
  • KF Monsudi
  • IA Yusuf
  • O Bamidele



Ectodermal dysplasia (ED) is a hereditary condition that occurs worldwide. It is due to abnormality in the development of skin and its appendages (hair, teeth and nail). ED also presents with ocular manifestations. This case of ED is reported to highlight ocular manifestations such as bilateral punctal agenesis, madarosis and blepharitis. The need for a multi-disciplinary approach in managing such cases is underscored.


Thurnam J. Two cases in which the skin, hair and teeth were very imperfectly developed. Proc RM Chir Soc 1848;31:71-82.

Weech AA. Hereditary ectodermal dysplasia (congenital ectodermal defect). Am J Dis Child 1929; 37:766-790.

Kara NS. Ectodermal dysplasia. Updated 11 February 2019 Accessed 02 January 2022.

Shafer, Hine, Levy. Diseases of the skin. In: Shafer’s Textbook of Oral Pathology. 5th Ed. New Delhi: Elsevier publications; 2006. pp. 1099–102.

Pinheiro M, Freire-Maia N. The ectodermal dysplasias. Arch Dermatol 1982;118:215-216.

Pinheiro M, Freire-Maia N. Ectodermal dysplasias: A clinical classification and a causal review. Am J Med Genet 1994;53:153-162.

Khalekar Y, Zope A, Chaudhari L, Brahmankar U. Ectodermal dysplasia. Indian J. Multidiscip Dent. 2016;6:55.

Kaercher T. Ocular symptoms and signs in patients with ectodermal dysplasia syndromes. Graefes Arch Clin Exp Ophthalmol 2004;242:495–500.

Mawhorter LG, Ruttum MS, Koenig SB. Keratopathy in a family with the ectrodactyly ectodermal dysplasia-clefting syndrome. Ophthalmology 1985;92:1427–1431.

Keklikci U, Yavuz I, Tunik S, Ulku ZB, Akdeniz S. Ophthalmic manifestations in patients with ectodermal dysplasia syndromes. Adv Clin Exp Med 2014;23:605–610.

Tyagi P, Tyagi V, Hashim AA. Ocular and non-ocular manifestations of hypohidrotic ectodermal dysplasia. BMJ Case Rep 2011;201.

Landau Prat D, Katowitz WR, Strong A, Katowitz JA. Ocular manifestations of ectodermal dysplasia. Orphanet J Rare Dis 2021;16:197

Familusi J, Jaiyesimi F, Ojo C AE. Hereditary anhydrotic ectodermal dysplasia: Studies in a Nigerian Family. Arch Dis Child 1975;50:642-647.

Samaila MO, Ajike SO, Ogunrinde OG, Mohammed TT. Hypohydrotic Ectodermal Dysplasia in Black Africans. Eur J Gen Med 2013;10:167-169.

Denloye OO, Dosunmu OO, Aderinokun GA, Onadeko MO. Ectodermal dysplasia with hypodontia in a set of Nigerian twins – a case report. Afr J Med Med Sci 1996;25:299‑301.

Ojo MA, Madukwe IU, Umweni AA, Mafeni JO. Hypohidrotic ectodermal dysplasia with total anodontia in a Nigerian child-A case report Nig. Dent J 1997;11:42-43.

Olasoji O, Tahir A. Ectodermal dysplasia: A review and findings in two female siblings in a Nigerian Family. Online J Dent Oral Med 2003;5:1-9.

Ogunrinde GO, Zubair RO, Aike SO, Ige SO. Hypohidrotic (anhidrotic) ectodermal dysplasia in female twins. Niger J Clin Pract 2012;15:98-100.

Lamartine J. Towards a new classification of ectodermal dysplasias. Clin. Exp. Dermatol. 2003;28:351-355.

Priolo M, Lagana C: Ectodermal dysplasias: a new clinical-genetic classification. J Med Genet 2001;38: 579–585.

Buyse M: Birth Defects Encyclopedia. Volume I. Ames, IA: Blackwell Scientific Publications, 1990.

Achigbu K, Odinaka K, Amemilo I. Hypohidrotic Ectodermal Dysplasia: A Case Report in a Seven-Year-Old Nigerian Child. Niger Med Pract 2022;81:4-6.

Ectodermal Dysplasia Accessed 02 January 2022).

Matsumoto Y, Dogru M, Goto E, Endo K, Tsubota K. Increased tear evaporation in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome. Jpn J Ophthalmol 2004;48:372-375.

Johnson A-W, Abdulkarim A, Adedoyin O, Adegboye A, Amole A. Anhidrotic ectodermal dysplasia: a case report in a Nigerian child and literature review. Niger J Paediatr 2012;39:79-83.

Merz EH, Tausk K, Dukes E. Meso-ectodermal dysplasia and its variants, with particular reference to the Rothmund-Werner syndrome. Am J Ophthalmol 1963;55:488-504.

Beckerman BL. Lacrimal anomalies in anhidrotic ectodermal dysplasia. Am J Ophthalmol 1973;75:728-730.

Mondino BJ, Bath PE, Foos RY, Apt L, Rajacich GM. Absent Meibomian Glands in the Ectrodactyly, Ectodermal Dysplasia, Cleft Lip-Palate Syndrome. Am J Ophthalmol 1984;97:496-500.

Marshall D. Ectodermal dysplasia; report of kindred with ocular abnormalities and hearing defect. Am J Ophthalmol. 1958;45:143-156.






Case Report