Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations—A case report

Abstract

Key Clinical Message Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis, which is characterized by the deposition of amorphous hyaline material in various tissues, including the mucosa, visceral organs, and skin. We report a case of a 11‐year‐old girl born to consanguineous parents presented with multisystemic manifestations of the disorder. The patient presented with progressive skin lesions evolving from blisters to papules, distinctive beaded papules along eyelid margins, hoarseness of voice, impaired speech, hair loss, and a painful jaw swelling. Clinical examination revealed waxy skin, atrophic scars, and keratotic plaques. Histopathology report revealed amorphous hyaline eosinophilic material deposition. This case report highlights the multisystemic manifestations of LP and the importance of early diagnosis and management.

Keywords

• case report
• genetic disorders
• genodermatosis
• lipoid proteinosis