Publication:

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

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.