Khadamy Joobin
Ophthalmology, Skellefteå Eye Clinic, Skellefteå, SWE.
Ophthalmology, University Hospital of Umeå, Umeå, SWE.
Cureus. 2025 Mar 4;17(3):e80023. doi: 10.7759/cureus.80023. eCollection 2025 Mar.
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.
鱼鳞病是一组角化性遗传性疾病，通常不仅累及皮肤，还会影响包括眼表在内的黏膜表面。本病例报告讲述了一名15岁男性患者，阐述了皮肤病状况与眼部健康之间的关键相互作用。该患者最初因慢性湿疹接受治疗，随后出现反复发作的眼痛、畏光以及角膜异常，包括点状上皮糜烂、点状深层基质混浊和明显的角膜神经。皮肤活检显示正角化过度且颗粒层正常，这一关键发现支持了鱼鳞病变异型（可能为X连锁鱼鳞病，XLI）而非寻常型鱼鳞病的诊断。源于角膜基底膜结构异常的眼部表现对于揭示潜在的全身性疾病至关重要。本病例强调了皮肤病如何影响眼表完整性，突出了多学科护理以及早期识别眼部体征以预防角膜瘢痕形成和视力损害等长期并发症的必要性。
