Papillon-Lefèvre syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA
PLS
PALS
Keratosis palmoplantar - periodontopathy
Number of Symptoms 33
OrphanetNr: 678
OMIM Id: 245000
ICD-10: Q82.8
UMLs: C0030360
MeSH: D010214
MedDRA:
Snomed: 40158001

Prevalence, inheritance and age of onset:

Prevalence: 0.25 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
 -Rare genetic disease
 -Rare skin disease
Disorder of lysosomal-related organelles
 -Rare genetic disease
Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Functional neutrophil defect
 -Rare genetic disease
 -Rare immune disease
Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0006480) Premature loss of teeth 23 / 7739
2
 (HPO:0100649) Neoplasm of the oral cavity Very frequent [Orphanet] 20 / 7739
3
 (HPO:0000166) Severe periodontitis 3 / 7739
4
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
5
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
6
 (HPO:0006323) Premature loss of primary teeth Very frequent [Orphanet] 18 / 7739
7
 (HPO:0000230) Gingivitis Very frequent [Orphanet] 31 / 7739
8
 (HPO:0006308) Atrophy of alveolar ridges 1 / 7739
9
 (HPO:0000704) Periodontitis Very frequent [Orphanet] 24 / 7739
10
 (HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
11
 (HPO:0002514) Cerebral calcification Frequent [Orphanet] 89 / 7739
12
 (HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
13
 (HPO:0006960) Choroid plexus calcification 5 / 7739
14
 (HPO:0011302) Long palm Occasional [Orphanet] 70 / 7739
15
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
16
 (HPO:0100523) Liver abscess Occasional [Orphanet] 4 / 7739
17
 (HPO:0011362) Abnormal hair quantity Occasional [Orphanet] 92 / 7739
18
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
19
 (HPO:0002225) Sparse pubic hair Occasional [Orphanet] 76 / 7739
20
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
21
 (HPO:0200039) Pustule Very frequent [Orphanet] 20 / 7739
22
 (HPO:0001006) Hypotrichosis Occasional [Orphanet] 219 / 7739
23
 (HPO:0001053) Hypopigmented skin patches Occasional [Orphanet] 80 / 7739
24
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
25
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
26
 (HPO:0010783) Erythema Occasional [Orphanet] 138 / 7739
27
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
28
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
29
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
30
 (HPO:0002861) Melanoma Occasional [Orphanet] 18 / 7739
31
 (OMIM) Dural and choroid plexus calcifications 1 / 7739
32
 (OMIM) Severe, early-onset periodontitis 3 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Both the milk teeth and the permanent teeth are lost prematurely. The skin lesions are very similar or identical to those of mal de Meleda (248300). Gorlin et al. (1964) suggested that calcification of the dura mater is ...
Molecular genetics OMIM Based on the previous mapping of the PLS locus to 11q14-q21, Toomes et al. (1999) used homozygosity mapping in 8 small consanguineous families to narrow the candidate region to a 1.2-cM interval between D11S4082 and D11S931. The gene ...