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Disease Profile
Papillon Lefevre syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Childhood
ICD-10
Q82.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Hyperkeratosis palmoplantaris with periodontosis; Keratoris palmoplantaris with periodontopathia; Palmar-plantar hyperkeratosis and concomitant periodontal destruction;
Categories
Congenital and Genetic Diseases; Immune System Diseases; Metabolic disorders;
Summary
Orpha Number: 678
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
Atrophy of alveolar ridges |
Shrinking of gum ridges
|
0006308 |
Gingivitis |
Inflamed gums
Red and swollen gums
[ more ] |
0000230 |
Palmoplantar hyperkeratosis |
Thickening of the outer layer of the skin of the palms and soles
|
0000972 |
Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
Premature loss of primary teeth |
Early loss of baby teeth
Premature loss of baby teeth
[ more ] |
0006323 |
Pustule |
Pimple
|
0200039 |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Severe periodontitis | 0000166 | |
30%-79% of people have these symptoms | ||
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Chronic furunculosis | 0011132 | |
Nail dystrophy |
Poor nail formation
|
0008404 |
Recurrent cutaneous abscess formation | 0100838 | |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
5%-29% of people have these symptoms | ||
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 |
Cigarette-paper scars |
'cigarette paper scarring'
Cigarette paper scarring
[ more ] |
0001073 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Hypertrichosis | 0000998 | |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Liver abscess | 0100523 | |
0002861 | ||
Osteolysis |
Breakdown of bone
|
0002797 |
Sparse body hair | 0002231 | |
Squamous |
0002860 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Choroid plexus calcification | 0006960 | |
Premature loss of teeth |
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ] |
0006480 |
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Papillon Lefevre syndrome. Click on the link to view a sample search on this topic.