BACKGROUND: Moniliform blepharosis is an ocular diagnostic feature of lipoid proteinosis, a rare autosomal recessive multisystem disorder with dermatological, otorhinolaryngological, ocular and neurological manifestations. Loss of function mutations in the extracellular matrix protein 1 (ECM1) gene have been identified as the causative factor, and their identification confirms the diagnosis. Until now, 41 different mutations have been described, the majority being nonsense and small insertions. Exon 6 and 7 are the most commonly involved. MATERIALS AND METHODS: Case report of an 8-year-old girl who presented with bilateral waxy papular lesions on the margins of the upper and lower lids since the age of 2 years. RESULTS: Biopsy of the eyelid lesions showed replacement of the sub-epidermal space by pink, PAS-positive and diastase resistant hyalinized material. Genetic testing of theECM1 gene showed a homozygous nonsense mutation c.1441C > T (p.Arg481X) in exon 10, confirming the diagnosis of lipoid proteinosis. CONCLUSIONS: Ophthalmologists may be the first physicians to encounter patients with lipoid proteinosis. The disease presents with protean symptoms, hence a careful examination with histopathology and genetic mutation analysis confirms the diagnosis, assisting in the counseling and management of patients.
BACKGROUND: Moniliform blepharosis is an ocular diagnostic feature of lipoid proteinosis, a rare autosomal recessive multisystem disorder with dermatological, otorhinolaryngological, ocular and neurological manifestations. Loss of function mutations in the extracellular matrix protein 1 (ECM1) gene have been identified as the causative factor, and their identification confirms the diagnosis. Until now, 41 different mutations have been described, the majority being nonsense and small insertions. Exon 6 and 7 are the most commonly involved. MATERIALS AND METHODS: Case report of an 8-year-old girl who presented with bilateral waxy papular lesions on the margins of the upper and lower lids since the age of 2 years. RESULTS: Biopsy of the eyelid lesions showed replacement of the sub-epidermal space by pink, PAS-positive and diastase resistant hyalinized material. Genetic testing of theECM1 gene showed a homozygous nonsense mutation c.1441C > T (p.Arg481X) in exon 10, confirming the diagnosis of lipoid proteinosis. CONCLUSIONS: Ophthalmologists may be the first physicians to encounter patients with lipoid proteinosis. The disease presents with protean symptoms, hence a careful examination with histopathology and genetic mutation analysis confirms the diagnosis, assisting in the counseling and management of patients.