A Rare Case Of Congenital Ichthyosis Associated With Hyper-Ige Syndrome With Ocular Surface Disease

Ichthyosis is characterized by thickening and scaling of the skin, most cases being hereditary and clinically apparent in the first year of life, and may affect the eyelids (with hyperkeratotic lesions, eyelash scales) and the cornea (punctiform keratitis, recurrent epithelial defects and perforation of the cornea). Hyper-IgE syndrome is a rare primary immunodeficiency characterized by recurrent skin infections, elevated serum IgE levels, eosinophilia, respiratory tract infections, and chronic eczema. The purpose of this case was to report a case of a child with a clinical diagnosis of Congenital Ichthyosis and Hyper-IgE Syndrome, with an associated history of bilateral recurrent corneal ulcers.

Corneal Section of Ophthalmology Department of Centro Hospitalar Universitário do Porto, Porto, Portugal.

A 7-year-old boy was referred to Department of Ophthalmology after recurrent corneal ulcers, with a clinical diagnosis of Congenital Ichthyosis (with desquamation of the hands, trunk and skin of the face) and Hyper-IgE Syndrome (with consecutive episodes of recurrent cutaneous abscesses during the introduction of various foods).

As ophthalmological antecedents, the parents reported several periods of red eyes and pain since the child's first year of life and 4 previous episodes of corneal ulcers (two in each eye), maintaining since then with ocular lubrication therapy. At baseline, uncorrected visual acuity (UCVA) was 20/25 bilateral; at slit-lamp examination, the presence of 2 inferior corneal ulcers was verified, with a dense and well-demarcated opacified ring at the edges and a slight symblepharon of the inferior conjunctiva bilaterally. Extraocular examination showed skin peeling on the trunk, hands and face.

Patient reinforce ocular lubrication with a gel combining 3% trehalose, 0.15% sodium hyaluronate and 0.25% carbomer and additional topical hydrocortisone (3.35mg/mL). On the 20^th day of follow-up, the infiltrate and the epithelial defect was almost healed. Ocular lubrication and topical hydrocortisone were maintained. At the end of follow-up, the child was asymptomatic with a bilateral UCVA of 20/25; at slit-lamp examination, there were no signs of ocular inflammation and there was mild inferior punctate keratitis and the inferior symblepharon remained unaltered.

This case presents an association between an inflammatory disease and a congenital condition that aggravates the dryness of the skin and mucous membranes, reducing the quality of life from the first years of life. In this type of case, it is essential to ensure the maintenance of homeostasis of the ocular surface with effective lubrication and to effectively reduce the levels of inflammation in the ocular tissues, mitigating acute crises that can compromise the long-term worse prognosis of the conjunctiva and corneal tissues at the over time. This clinical case demonstrates the preponderance that ocular surface can assume in rare but disabling systemic diseases and the importance of a timely diagnosis, stratification and treatment.