Hypohidrotic Ectodermal Dysplasia: A Rare Disorder With Bilateral Infantile Glaucoma

J Glaucoma. 2019 Apr;28(4):e58-e60. doi: 10.1097/IJG.0000000000001156.

Abstract

Ectodermal dysplasia (ED) is a disorder that occurs due to abnormalities of ectodermal structures such as skin, teeth, hair, nails, and eccrine glands. Approximately 200 different conditions have been identified as ED, the most common being hypohidrotic ED. It is characterized by hypotrichosis (sparse scalp or body hair), hypodontia (absent or malformed teeth), and hypohidrosis (reduced ability to sweat). It is also associated with distinctive facial features, such as the prominent forehead, thick lips, flattened nasal bridge, and thin wrinkled skin. Ocular anomalies are less frequently observed, the most common ones being dysplasia of the lacrimal gland or meibomian gland that leads to dry eye and variable corneal involvement. We report a case of a 9-year-old child of hypohidrotic ED presenting with bilateral infantile glaucoma managed by the implantation of glaucoma drainage devices (GDDs) after a failed trabeculotomy and trabeculectomy in both eyes.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / complications*
  • Follow-Up Studies
  • Glaucoma Drainage Implants
  • Humans
  • Hydrophthalmos / etiology*
  • Hydrophthalmos / physiopathology
  • Hydrophthalmos / surgery
  • Intraocular Pressure / physiology
  • Male
  • Prosthesis Implantation
  • Tonometry, Ocular