ORPHA:678
Papillon-Lefèvre syndrome
Synonyms: Keratosis palmoplantar-periodontopathy syndrome · PLS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Papillon-Lefèvre syndrome | Keratosis palmoplantar-periodontopathy syndrome · PLS |
| fr | Syndrome de Papillon-Lefèvre | Syndrome de kératodermie palmoplantaire-périodontopathie |
| de | Papillon-Lefèvre-Syndrom | Keratosis palmoplantaris - Periodontopathie |
| es | Síndrome de Papillon-Lefèvre | Queratosis palmoplantar-periodontopatía |
| it | Sindrome di Papillon-Lefèvre | Cheratosi palmoplantare - periodontopatia · PLS |
| nl | Syndroom van Papillon-Lefèvre | PLS · Palmoplantaire keratose - parodontopathie-syndroom |
| pt | Síndrome Papillon-Lefèvre | PLS · Síndrome de queratose palmo-plantar-periodontopatia |
| pl | Zespół Papillon i Lefèvre | Keratodermia dłoni i podeszw stóp - periodontopatia · plS |
| cs | Papillonův-Lefèvreho syndrom | Syndrom zahrnující palmoplantární keratózu a periodontopatii · PLS · Papillon-Lefèvreho syndrom |
| uk | Синдром Папілона-Лефевра | Синдром кератозно-пальмоплантарно-періодонтопатії · PLS |
| zh | Papillon-Lefèvre综合征 | 掌跖角化-牙周病综合征 |
| tr | Papillon-Lefèvre sendromu | PLS · Keratoz palmoplantar-periodontopati sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245000 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | index | validated |
| MONDO | 0009490 | E | validated | |
| MeSH | D010214 | E | validated | |
| UMLS | C0030360 | E | validated | |
| GARD | 3100 | E | validated | |
| MedDRA | 10082856 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:307804Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:309340Disorder of lysosomal-related organelles
rare inborn errors of metabolism; rare genetic diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:674648Syndrome with congenital phagocyte functional defect as a major feature
rare genetic diseases; rare immunological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTSC | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2528 | ENSG00000109861 | 602365 | 11q14.2 | cathepsin C | 16460249[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.25 / 100 000 | Worldwide | Value and class | Validated | 14244097[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0006308 | Atrophy of alveolar ridges | |
| HP:0000230 | Gingivitis | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0000704 | Periodontitis | |
| HP:0006323 | Premature loss of primary teeth | |
| HP:0200039 | Pustule | |
| HP:0000166 | Severe periodontitis | |
| HP:0009804 | Tooth agenesis | |
| Frequent (79-30%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0002514 | Cerebral calcification | |
| HP:0011132 | Chronic furunculosis | |
| HP:0008404 | Nail dystrophy | |
| HP:0100838 | Recurrent cutaneous abscess formation | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001581 | Recurrent skin infections | |
| Occasional (29-5%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0001073 | Cigarette-paper scars | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000998 | Hypertrichosis | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0100523 | Liver abscess | |
| HP:0002861 | Melanoma | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0002797 | Osteolysis | |
| HP:0002231 | Sparse body hair | |
| HP:0002860 | Squamous cell carcinoma | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/678
- This record as JSON: /data/d/678.json