DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20192932

Severe Ocular Surface abnormalities in a child and Ectodermal Dysplasia: A Case Report.

Shailender Minhas, Rajeev Tuli, Gaurav Sharma

Abstract


Ectodermal Dysplasia is a disorder that occurs due to abnormal development of at least two major ectodermal derivatives in the developing embryo. Author report the case of a 10 year old male child who was referred to our department with complaints of absent sweating, foreign body sensation and watering in both eyes for past few months. The family history could be traced to four generations and there was an observed trend of increase in severity of signs and symptoms occurring at younger age.  The purpose of this case report is to create awareness in the Ophthalmic community about the diagnosis and clinical manifestations of the disorder. This case highlights the role of multidisciplinary approach for management of systemic disease, genetic evolution of affected individual and carriers and genetic counseling.


Keywords


Dry Eye, Ectodermal dysplasia, Meibomian Glands

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References


Wright JT, Grange DK, Fete M. Gene Reviews. Seattle: University of Washington, 1993-2019. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1112/.

Rouse C, Siegfried E, Breer W. Hair and sweat glands in families with Hypohidrotic Ectodermal dysplasia: further characterization. Arch Dermatol. 2004;140(7):850-5.

Mondino BJ, Bath PE, Foos RY. Absent meibomian glands in the ectrodactyly, ectodermal dysplasia-cleft palate syndrome. Am J Ophthalmol. 1984;97(4):496-500.

Mawhorter LG, Ruttum MS, Koenig SB. Keratopathy in a family with the ectrodactyly-ectodermal dysplasia-clefting syndrome. Ophthalmology. 1985;92(10):1427-31.

Kasmann B, Ruprecht KW. Ocular manifestations in a father and son with EEC Syndrome. Graefes Arch Clin Exp Ophthalmol. 1997; 235(8):512-16.

Kaercher T. Ocular symptoms and signs in patients with ectodermal dysplasia syndrome. Graefes Arch Clin Exp Ophthalmol. 2004;242(6):495-500.