Related Experiment Video
Updated: May 24, 2026
06:48
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
[Papillon-Lefèvre syndrome: a case report]
Yuanjiao Chen1, Yi Ding, Minchuan Liu
1Dept. of Periodontics, West China School of Stomatology, Sichuan University, Chengdu 610041, China.
Summary
Papillon-Lefèvre syndrome (PLS) is a rare genetic disorder causing skin and gum issues. This report details a case study of a young boy diagnosed with this condition, highlighting its characteristic symptoms.
Area of Science:
- Genetics
- Dermatology
- Periodontology
Background:
- Papillon-Lefèvre syndrome (PLS) is an extremely rare autosomal recessive disorder.
- It is characterized by palmoplantar hyperkeratosis and severe, destructive periodontitis.
- PLS leads to the premature loss of both primary and permanent teeth.
Observation:
- This article reports on a boy diagnosed with PLS.
- Focuses on the clinical presentation and diagnosis.
Findings:
- The case study confirms the typical manifestations of PLS.
- Highlights the severe destructive periodontitis associated with the syndrome.
Implications:
- Early diagnosis and management are crucial for PLS patients.
- Understanding PLS aids in genetic counseling and treatment strategies.
- Further research can explore potential therapeutic interventions.
Related Concept Videos
01:24Nephrotic Syndrome I : Introduction
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
01:26Nephrotic Syndrome II : Assessment and Medical Management
IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document any history...
01:22Lysosomal Hydrolases
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
01:19Cushing Syndrome II: Pathophysiology
Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
01:27Esophageal Achalasia
Esophageal achalasia is a chronic neurogenic disorder characterized by impaired relaxation of the lower esophageal sphincter (LES) and absent or ineffective peristalsis in the distal esophagus. This leads to a functional obstruction without a physical blockage, despite significant disruption of esophageal motility.EtiologyAchalasia is caused by degeneration of the myenteric (Auerbach's) plexus, specifically the loss of inhibitory ganglion cells that produce vasoactive intestinal peptide (VIP)...
01:26Cushing Syndrome I: Introduction
Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...