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Papillon-Lefèvre syndrome
1 OMIM reference -
1 associated gene
27 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 9
Haim-Munk syndrome
1 OMIM reference -
1 associated gene
16 signs/symptoms
Papillon-Lefèvre syndrome
Haim-Munk syndrome

CTSC
(UniProt - OMIM)
 CTSC
(UniProt - OMIM)

COMMON
GENES 		CTSC


Citations in the biomedical literature:


Papillon-Lefèvre syndrome
CTSC
Haim-Munk syndrome



Papillon-Lefèvre syndrome
Haim-Munk syndrome

Synonym(s):
- Keratosis palmoplantar - periodontopathy
- PLS
Synonym(s):
- Keratosis palmoplantaris - periodontopathia - onychogryposis
- Palmoplantar hyperkeratosis - periodontopathia - onychogryposis
- Palmoplantar keratoderma - periodontopathia - onychogryposis
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare odontologic disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D010214
External references:
1 OMIM reference -
1 MeSH reference: C537627
COMMON
SIGNS 		- Alveolysis / paraodontitis
- Anomalies of spine, vertebrae and pelvis
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dysplastic / thick / grooved fingernails
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Long hand / arachnodactyly
- Osteolysis / osteoclasia / bone destruction / erosions
- Palmoplantar hyperkeratosis / keratoderma

Papillon-Lefèvre syndrome
Haim-Munk syndrome

Very frequent
- Anodontia / oligodontia / hypodontia
- Anomalies of teeth and dentition
- Gingivitis
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Premature lost of decidious teeth
- Pustula / pustulosis

Frequent
- Intracranial / cerebral calcifications
- Nails anomalies
- Repeat respiratory infections
- Thin / hypoplastic / hyperconvex fingernails

Occasional
- Decreased body hair / axillar / pubic hairlessness
- Hirsutism / hypertrichosis / Increased body hair
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Irregular / patchy skin hypopigmentation
- Liver / hepatic abscess
- Melanoma
- Skin tumors / lumps / epidermal cysts


Very frequent
- Dysplastic / thick / grooved toenails
- Flat foot
- Thick skin / pachydermia / orange skin
- Thickened / hypertrophic / fibromatous gingivae

Frequent
- Terminal / third phalangeal bone of fingers broadened / deviated

Occasional
- Arthritis / synovitis / synovial proliferation
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness