Ichthyosis is a group of heterogenous inherited skin disorders characterized by abnormal cornification and keratinization of the skin. Autosomal recessive congenital ichthyosis presents with severe lagophthalmos and cicatricial ectropion of both upper and lower lids. Chronic corneal exposure from lid abnormalities may lead to ulcerative keratitis or corneal perforation.
The case highlights a rarely seen condition that presents with potentially serious ocular complications and vision loss. Corneal complications may be avoided or managed with moisture goggles, corneal vaulting with scleral lenses, topical therapeutics, amniotic membrane, and surgical lid repair.
A 25-year-old woman presented with a painful right eye for 1 week. She had a medical history of autosomal recessive congenital ichthyosis. Her ocular adnexa revealed bilateral lagophthalmos and cicatricial ectropion of both upper and lower lids. The slit lamp of examination revealed an injected eye with corneal ulcer with hypopyon in the right eye and quiet eye with corneal scarring in the left eye. The patient was treated with topical moxifloxacin and polymyxin B sulfate/trimethoprim as well as in-office homatropine 5% in the right eye. The keratitis was treated to resolution, and the patient referred for consultation on lid repair.
Chronic corneal exposure from autosomal recessive congenital ichthyosis may lead to severe dry eye, ulcerative keratitis, or perforation. Patients should be monitored carefully for corneal disease, educated on methods and devices to protect the corneal surface, and referred for surgical repair if indicated. Although rare, this condition presents unique findings that may be visually devastating. Awareness of the condition, as well as the various clinical presentations and appropriate management necessary, will prove beneficial to the patient.
1Nova Southeastern University, Fort Lauderdale, Florida
Submitted: August 16, 2018
Accepted: April 16, 2019
Funding/Support: None of the authors have reported funding/support.
Conflict of Interest Disclosure: None of the authors have reported a financial conflict of interest.
Author Contributions: Writing – Original Draft: LV; Writing – Review & Editing: JS.