Periodontitis, Aggressive, 1

Alternative Names

  • JP
  • JPD
  • Periodontitis, Juvenile
  • Periodontitis, Prepubertal
  • PPP

Associated Genes

Cathepsin C
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WHO-ICD-10 version:2010

Diseases of the digestive system

Diseases of oral cavity, salivary glands and jaws

OMIM Number

170650

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11q14.2

Description

Periodontitis is a group of heterogenous diseases resulting from an irreversible destruction of the periodontal tissues. Juvenile periodontitis typically occurs in the pre-teen to late-teen years, and is characterized by marked inflammation of the gums, and heavy accumulation of plaque and calculus. Pockets are formed around the teeth, which fill up with infection. The infection, can ultimately lead to bone loss, causing the teeth to become loose. The front teeth and the six-year molars are the most commonly affected teeth. Major differences between PPP and adult peridontisis lie in the age of onset of the disease, the rapid rate of diseases progression, manifestations of defects in host response, and in the composition of subgingival microflora. The disease is often associated with severe congenital defects of hematological origin and alterations in neutrophil chemotaxis function.

Periodontal probing and analysis of dental radiographs is usually enough for diagnosis of PPP. Important differential diagnoses to be considered include Histiocytosis X and Burkitt's lymphoma. If PPP is accompanied with hyperkeratosis of the palms and soles, it is referred to as Papillon-Lefevre Syndrome. Good oral hygiene is the best method of prevention of the disease. If treatment is delayed, continued loss of alveolar bone may require extraction of the teeth.

Periodontic diseases are generally though to involve interplay of environmental and genetic factors. The importance of a genetic factor is, however, more important in the case of early onset periodontitis. Several reports have described families with many members affected with PPP. Recent studies have gethered evidence suggesting CTSC (Cathepsin C) on chromosome 11 to be the causative gene for the disease.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
170650.1.01JordanFemaleYesYes Generalized periodontitisNM_001814.6:c.1040A>GHomozygousAutosomal, RecessiveHart et al. 2000 Proband
170650.1.02JordanFemaleYesYes Generalized periodontitisNM_001814.6:c.1040A>GHomozygousAutosomal, RecessiveHart et al. 2000 Sister of 170650.1.0...
170650.1.03JordanMaleYesYes Generalized periodontitisNM_001814.6:c.1040A>GHomozygousAutosomal, RecessiveHart et al. 2000 Double first cousin ...
170650.1.04JordanFemaleYesYes Generalized periodontitisNM_001814.6:c.1040A>GHomozygousAutosomal, RecessiveHart et al. 2000 Double first cousin ...
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