Ocular Manifestations Leading to the Diagnosis of Ichthyosis: A Case Report
Year: 2025
Type: article
Study design: Case Report
Abstract: Ichthyosis, a group of genetic disorders of keratinization, often extends beyond the skin to affect mucosal surfaces, including the ocular surface. This case report of a 15-year-old male illustrates the critical interplay between dermatological conditions and ocular health. Initially treated for chronic eczema, the patient presented with recurrent ocular pain, photophobia, and corneal abnormalities including punctate epithelial erosions, punctate deep stromal opacities, and prominent corneal nerves. A skin biopsy revealed orthokeratosis and a normal granular layer, a key finding supporting a diagnosis of an ichthyosis variant, likely X-linked ichthyosis (XLI), over ichthyosis vulgaris. The ocular manifestations stemming from structural corneal basement membrane abnormalities were pivotal in uncovering the underlying systemic disorder. This case underscores how dermatological diseases can impact ocular surface integrity, emphasizing the need for multidisciplinary care and early recognition of ocular signs to prevent long-term complications like corneal scarring and vision impairment.
Source: Cureus
DOI: 10.7759/cureus.80023
Author: Joobin Khadamy
Institution: University Hospital of Umeå
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4408153132