Lipoid proteinosis: A multimodal intervention for better aesthetic outcome

• Author Details:   
• Sudhesshna Devi ^*
• Poongundran Chandrasekaran
• Afthab Jameela Wahab

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Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis caused by a mutation in the Extracellular Matrix Protein-1 (ECM-1) gene, leading to the deposition of amorphous hyaline material in the dermis and submucosal connective tissue. The ECM1 gene encodes a structural component of the basement membrane and extracellular matrix. Currently, there is no curative treatment for LP, and management is primarily symptomatic. This article provides a detailed description of a case of LP and a review of existing literature on the various interventional treatment options with their mode of action in LP.

A 20-year-old Asian male presented with generalized disfiguring skin lesions since birth. Clinical examination revealed characteristic findings, including beaded pearly papules along the upper eyelid margins, multiple skin-coloured waxy papules with varioliform scars on the face, and round to oval atrophic scars on the back, chest, and limbs. The diagnosis of LP was confirmed based on histopathological and genetic findings, and the patient was initiated on oral Acitretin at a dose of 25 mg/day. Additionally, the patient underwent fractional carbon dioxide (CO2) laser therapy for atrophic scars every 5 weeks and 4 sessions of intralesional corticosteroid injection for facial papules every 2 weeks. After four months of this combined therapeutic approach, there was significant improvement in both atrophic scars and papules. The patient remains under regular follow-up to monitor progress and manage the condition.