Lipoid Proteinosis in a Pediatric Patient

Lipoid proteinosis is a rare, autosomal recessive inherited metabolic disorder. Its low prevalence contributes to a relatively high rate of clinical misdiagnosis. A 5-year-old female with progressive hoarseness over 4 years and the development of multiple papules on the eyelids over the past 6 months. Physical examination revealed pale, sesame-sized papules densely distributed along both eyelids; irregular, pale white patches on the oral mucosa; and clustered pale patches without evident scaling on the left forearm. Histopathologic analysis demonstrated deposition of lightly stained, homogeneous, and transparent material within the dermis, around appendages, and perivascular regions. Periodic acid-Schiff (PAS) staining was positive. Whole-exome sequencing supported a diagnosis of lipoid proteinosis. The treatment regimen included topical carbon dioxide laser therapy and oral administration of acitretin at a dose of 10 mg daily. This case report may contribute to improved clinical recognition of lipoid proteinosis and aid in reducing diagnostic errors.