Hyperbilirubinemia with Unusual Dermatologic Signs: A Diagnostic Puzzle.

Abstract

Jaundice, characterized by yellow discoloration of the skin, mucous membranes, and sclera, results from hyperbilirubinemia and is uncommon in adults. Its occurrence often signals serious underlying conditions. Hyperbilirubinemia may also present with cutaneous manifestations, including xerosis, hyperpigmented plaques, and erythematous rashes. A 47-year-old woman presented with hyperbilirubinemia, transaminitis, and cutaneous manifestations, including hyperpigmented plaques on the face, erythematous rashes on the hands and feet, and yellowish discoloration of the skin. Despite extensive evaluation, including viral hepatitis screening, autoimmune markers, and imaging, a definitive diagnosis remained elusive. The clinical features and laboratory findings suggested Primary Biliary Cholangitis (PBC) as the most likely diagnosis, although further confirmation through advanced serological testing and liver biopsy was needed. Treatment with ursodeoxycholic acid (UDCA) and high-dose oral methylprednisolone showed clinical improvement but persisted in transaminitis with a normal ultrasonographic appearance. This case emphasizes the importance of recognizing cutaneous signs in systemic diseases and the need for a comprehensive diagnostic approach in resource-limited settings.