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Laparoscopic Anatomical Liver Segment VII Resection with Liver Parenchymal Transection Following a Priority Approach
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Published on: May 23, 2025

Papillon-lefevre syndrome with liver abscess.

S S Dhanawade1, S D Shah, G M Kakade

  • 1Department of Pediatrics and Dermatology, Bharati Vidyapeeth Deemed University and Medical College, Sangli, Maharashtra, India. sarasubodh@yahoo.com

Indian Pediatrics
|September 1, 2009
PubMed
Summary

A rare genetic disorder, Papillon-Lefevre syndrome, was diagnosed in an 8-year-old boy presenting with fever of unknown origin and liver abscess. This syndrome also caused palmoplantar keratoderma and early tooth loss.

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Area of Science:

  • Pediatric Medicine
  • Genetics
  • Dermatology

Background:

  • Fever of unknown origin (FUO) presents a diagnostic challenge in pediatric cases.
  • Liver abscesses are serious infections requiring prompt diagnosis and management.
  • Papillon-Lefevre syndrome is a rare autosomal recessive disorder characterized by distinct clinical features.

Observation:

  • An 8-year-old boy presented with persistent fever of unknown origin.
  • Clinical examination revealed palmoplantar keratoderma (thickening of the skin on palms and soles) and premature loss of deciduous and permanent teeth.
  • Imaging studies confirmed the presence of a liver abscess.

Findings:

  • The constellation of symptoms, including FUO, liver abscess, palmoplantar keratoderma, and premature tooth loss, strongly suggested Papillon-Lefevre syndrome.
  • This case highlights the importance of considering rare genetic syndromes in the differential diagnosis of complex pediatric presentations.
  • The diagnosis was supported by the characteristic clinical phenotype.

Implications:

  • Early recognition of Papillon-Lefevre syndrome is crucial for appropriate management and genetic counseling.
  • This case underscores the need for a multidisciplinary approach in diagnosing and managing children with complex and rare diseases.
  • Further research into the pathogenesis and treatment of Papillon-Lefevre syndrome may improve patient outcomes.