A Rare Ocular Manifestation of Lipoid Proteinosis

Lipoid proteinosis (LP) is a rare genetic disorder passed down in an autosomal recessive pattern. It affects multiple body systems and is marked by the abnormal buildup of hyaline material in different tissues. These deposits lead to changes in the oral mucosa and skin, beaded eyelid lesions, hoarseness of voice, and neurological symptoms. This case report describes a 20-year-old woman with an eight-year history of abnormal skin lesions on her eyelids. Examination revealed continuous yellow-white, beaded lesions along the upper and lower eyelid margins of both eyes. Her visual acuity was 6/9 bilaterally, with an intraocular pressure of 14 mmHg and normal anterior segment findings. Fundus examination was unremarkable. Systemic manifestations included waxy skin thickening, papular lesions on the knees, elbows, and back, and alopecia. She also exhibited thickened oral mucosa and oral stomatitis. Additionally, she presented with a hoarse voice caused by vocal cord nodules, delayed developmental milestones, and suspected memory loss. A skin biopsy confirmed the presence of hyaline material consistent with LP. She is currently receiving multidisciplinary care involving a dermatologist, otorhinolaryngologist, neurologist, and ophthalmologist. This case highlights the important role ophthalmologists play in the diagnosis of LP. Given the pathognomonic ocular feature - moniliform blepharosis - ophthalmologists may serve as key contributors to early detection, facilitating timely interdisciplinary collaboration. A multidisciplinary approach can help prevent complications and improve the patient's quality of life.