Lipoid proteinosis in a 36-year-old woman: An index case from Qatar.

Abstract

Background: Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 (ECM1) gene. Reporting index cases is important for enhancing clinical recognition and understanding phenotypic variability.

Case presentation: A 36-year-old woman presented with bilateral pruritic eyelid papules and long-standing hoarseness. Clinical examination revealed moniliform blepharosis, oral cobblestone plaques, and a broad tongue. Neuroimaging showed symmetrical calcifications in the medial temporal lobes. Fiberoptic laryngoscopy demonstrated an infantile larynx, an uncommon finding in LP. A positive family history and parental consanguinity supported the diagnosis. The patient declined genetic testing and neurological treatment despite experiencing a seizure episode and mood disturbances. Topical and systemic corticosteroids were ineffective. She continues ophthalmology follow-up but has discontinued dermatological and genetic care.

Conclusion: This case highlights the classic features of LP, a potentially novel laryngeal finding, and emphasizes the need for early diagnosis and multidisciplinary management to address neurological and psychosocial complications.