Underlying Papillon–Lefèvre Syndrome Discovered in a Child with Pyogenic Liver Abscess with Budd–Chiari Syndrome: A Case Report with Review of Literature

Abstract Background: Papillon–Lefèvre syndrome (PLS) is a rare autosomal recessive disorder comprising of palmoplantar hyperkeratosis, periodontitis, and recurrent pyogenic infections. Rarely, children with this disorder may develop pyogenic liver abscesses. Clinical Description: An 8-year-old girl presented with fever and pain abdomen for 1 month. Head-to-toe examination revealed diffuse gingival swelling and premature loss of dentition, along with hyperkeratosis in palms and soles. The abdomen was distended, with venous prominence and hepatosplenomegaly. Management and Outcome: Investigations showed microcytic hypochromic anemia, raised total leukocyte count, and deranged coagulation profile. Radiological imaging confirmed a liver abscess in the right hepatic lobe with thrombosis in the right hepatic vein and inferior vena cava confirmatory of Budd–Chiari syndrome. Ultrasound-guided therapeutic drainage and intravenous antibiotics were administered along with salicylic acid ointment and emollients for dermatological lesions. The child was referred to the dental surgery department where descaling was done and oral hygiene was advised. Conclusion: Pyogenic liver abscess and hepatic vein thrombosis may rarely be manifestations of a rare underlying genetic disorder such as PLS. A careful examination of the skin and oral cavity can help a pediatrician to elicit this underlying disorder and provide appropriate multipronged care.