File:Ocular and Dermatological Findings in X-Linked Ichthyosis (XLI) with Cornea Farinata.png

Ocular and Dermatological Findings in X-Linked Ichthyosis (XLI) with Cornea Farinata:

A 15-year-old male, presented with recurrent ocular discomfort, photophobia, and difficulty opening his eyes in the morning, alongside chronic dry, scaly skin lesions.

• (A) Slit-lamp biomicroscopy revealing fine, prominent corneal nerves (yellow arrow), a characteristic finding in X-linked ichthyosis (XLI), often associated with steroid sulfatase deficiency. • (B) Higher magnification image highlighting punctate stromal deposits (red arrow), likely due to cholesterol sulfate accumulation. • (C) Clinical photograph of the lower limb showing polygonal, adherent dark scales, a hallmark of X-linked ichthyosis. • (D) Histopathological section of the skin demonstrating compact orthokeratosis and a preserved granular layer, distinguishing X-linked ichthyosis from ichthyosis vulgaris.

Additionally, the patient exhibited cornea farinata, a condition characterized by fine, dust-like stromal opacities. However, these opacities could not be successfully imaged. Cornea farinata is typically asymptomatic and does not affect vision but may be associated with metabolic disorders or systemic conditions such as X-linked ichthyosis. ^[1] (Courtesy of J. Khadamy)