Moniliform blepharosis: A visual journey and review of literature

A 40-year-old female presented with a 20-day history of a fleshy growth on the right lower eyelid. Examination revealed a pyogenic granuloma on the right lower lid and numerous small, waxy, bead-like papules clustered along both eyelid margins Fig. 1. Additional findings included a hypertrophied tongue with dental impressions Fig. 2 and cutaneous lesions. Visual acuity and anterior/posterior segment examinations were normal. The patient reported hoarseness of voice and skin lesions since early childhood, without neurological symptoms. The pyogenic granuloma was surgically excised, and Otorhinolaryngology (ENT) and dermatology referrals were obtained for systemic evaluation.Figure 1: Slit-lamp photograph showing moniliform blepharosis – multiple beaded, waxy papules along the eyelid margins, considered pathognomonic of the disease. May be associated with ocular discomfort, epiphora, or other ocular surface symptomsFigure 2: Thickened, pale, waxy tongue, with prominent dental impressions demonstrating typical oral mucosal infiltration by hyaline-like material, contributing to speech and swallowing difficultiesDiscussion Lipoid proteinosis (Urbach–Wiethe disease) is a rare autosomal recessive multisystem disorder first described by Urbach and Wiethe in 1929. It is caused by ECM1 gene mutations on chromosome 1q21, leading to periodic acid-Schiff (PAS)-positive hyaline-like material accumulation in skin, eyes, larynx, oral and nasal mucosa, and brain.1 Three hallmark features include moniliform blepharosis (bead-like eyelid papules), hoarseness of voice, and intracranial calcifications.2 Other manifestations include vesiculobullous or keratotic skin lesions, respiratory difficulties, impaired tongue protrusion, loss of tongue papillae, seizures, migraine, and psychiatric disorders.2–4 Histopathological examination demonstrates eosinophilic, PAS-positive, and diastase-resistant hyaline deposits in the dermis, especially around blood vessels and adnexal structures, and thickened basement membrane.5 Diagnosis is primarily clinical, confirmed by genetic testing. In this case, diagnosis was made clinically based on characteristic features, as histopathology was not performed. In resource-limited settings, pathognomonic signs may suffice for diagnosis. Management is multidisciplinary, focusing on airway safety, cosmetic correction, and control of systemic manifestations. Limited therapeutic options include CO2 laser, vocal cord dissection, blepharoplasty, dermabrasion, and chemical peeling.5 This case contributes to existing literature Table 1 by documenting the importance of detailed ophthalmic examination in identifying systemic genetic disorders to enhance the quality of life. Informed patient consent has been obtained for the use of photographs/video for educational purposes.Table 1: Compilation of key literature on lipoid proteinosisAuthors' contributions Both authors contributed equally to the concept, design, literature review, manuscript preparation, editing, and review. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship: Nil. Conflicts of interest: There are no conflicts of interest.