Related Experiment Video
Updated: Jun 20, 2026
13:57
Laparoscopic Anatomical Liver Segment VII Resection with Liver Parenchymal Transection Following a Priority Approach
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
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.
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.
Related Concept Videos
01:19Appendicitis
Appendicitis is an acute inflammatory condition of the vermiform appendix, most commonly caused by obstruction of its lumen. The appendix is a narrow, blind-ended pouch that extends from the cecum, making it particularly prone to obstruction. Causes include fecaliths, lymphoid hyperplasia (often after viral infections), parasites, tumors, or foreign bodies. This obstruction initiates a cascade of pathological changes.Luminal Obstruction and Early InflammationAfter obstruction, normal mucosal...
01:26Diseases of the Liver and Gallbladder
Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not related to...
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not related to...
01:28Pleural Effusion II: Symptoms and Management
Pleural Effusion Overview
A pleural effusion is the abnormal collection of fluid between the parietal and visceral pleura layers of tissue that form the lining of the lungs and chest cavity. It can occur independently or due to surrounding parenchymal diseases, such as infection, malignancy, or inflammatory conditions.
Clinical Manifestations:
A pleural effusion is the abnormal collection of fluid between the parietal and visceral pleura layers of tissue that form the lining of the lungs and chest cavity. It can occur independently or due to surrounding parenchymal diseases, such as infection, malignancy, or inflammatory conditions.
Clinical Manifestations:
01:26Brain Abscess l: Introduction
A brain abscess is a focal, intracerebral infection characterized by a localized collection of pus within the brain parenchyma, resulting from microbial invasion and the body’s inflammatory response. It progresses through stages: early and late cerebritis, followed by early and late capsule formation, reflecting tissue destruction, immune response, and eventual encapsulation.Etiology and PathogenesisCausative organisms vary with source and host factors, often involving polymicrobial infections,...
01:21Acute Pancreatitis II: Pathophysiology
The pathophysiology of acute pancreatitis centers on injury to pancreatic acinar cells, which initiates a cascade of harmful intracellular events.This injury leads to premature activation of trypsinogen to trypsin in the pancreas. Trypsin then activates other digestive enzymes, such as chymotrypsin, elastase, and phospholipase A2, which begin breaking down pancreatic tissue. The resulting autodigestion causes local inflammation, tissue swelling, hemorrhage, and fat necrosis.Injured acinar cells...
01:20Cholecystitis
Cholecystitis is inflammation of the gallbladder, most commonly caused by obstruction of the cystic duct. This blockage prevents bile from draining, leading to gallbladder distension, inflammation, and potentially serious complications. This condition may present acutely or chronically and can happen with or without gallstones.EtiologyAbout 95% of cholecystitis cases are calculous, caused by gallstones blocking the cystic duct, leading to bile accumulation and inflammation of the gallbladder...