Hypohidrotic Ectodermal Dysplasia: A Rare Disorder With Bilateral Infantile Glaucoma

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Ectodermal dysplasia (ED) encompasses over 200 genetic disorders affecting ectodermal structures.
• Hypohidrotic ED (HED) is the most common type, characterized by hypotrichosis, hypodontia, and hypohidrosis.
• Ocular anomalies, such as lacrimal or meibomian gland dysplasia leading to dry eye, are less common in HED.

Observation:

• A 9-year-old child with confirmed hypohidrotic ED presented with bilateral infantile glaucoma.
• Initial glaucoma management included trabeculotomy and trabeculectomy, which were unsuccessful in both eyes.
• The patient subsequently underwent bilateral glaucoma drainage device (GDD) implantation.

Findings:

• This case illustrates a rare presentation of infantile glaucoma in a child with hypohidrotic ED.
• Surgical intervention with GDD implantation was necessary due to the failure of conventional glaucoma surgeries.
• Successful management of severe infantile glaucoma associated with HED was achieved through GDD implantation.

Implications:

• This case expands the known spectrum of ocular manifestations in hypohidrotic ED.
• It underscores the importance of considering and managing glaucoma in children with HED.
• Glaucoma drainage devices represent a viable surgical option for refractory infantile glaucoma in the context of HED.