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Descriptor English: Papillon-Lefevre Disease
Descriptor Spanish: Enfermedad de Papillon-Lefevre
Descriptor enfermedad de Papillon-Lefevre
Scope note: Trastorno autosómico recesivo poco frecuente que aparece entre el primero y quinto años de vida. Se caracteriza por queratodermia palmoplantar con periodontitis, seguida por la caída prematura de los dientes de leche y de los permanentes. Esta enfermedad se ha asociado a mutaciones del gen de la CATEPSINA C.
Descriptor Portuguese: Doença de Papillon-Lefevre
Descriptor French: Maladie de Papillon-Lefèvre
Entry term(s): Haim Monk Syndrome
Haim-Monk Syndrome
Keratosis Palmoplantar Periodontopathies
Keratosis Palmoplantar Periodontopathy
Keratosis Palmoplantaris with Periodontopathia
Palmoplantar Periodontopathies, Keratosis
Papillon Lefevre Disease
Papillon Lefevre Syndrome
Papillon-Lefevre Syndrome
Tree number(s): C16.320.850.475.600
C17.800.428.435.600
C17.800.827.475.600
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D010214
Scope note: Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 91; was see under KERATOSIS PALMARIS ET PLANTARIS 1975-90 (which became KERATODERMA, PALMOPLANTAR 1993)
Online Note: search KERATODERMA, PALMOPLANTAR 1974
History Note: 91(75); was see under KERATOSIS PALMARIS ET PLANTARIS 1975-90 (which became KERATODERMA, PALMOPLANTAR 1993)
Entry Version: PAPILLON LEFEVRE DIS
Related: Cathepsin C MeSH
DeCS ID: 10401
Unique ID: D010214
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1991/01/01
Date of Entry: 1999/01/01
Revision Date: 2015/06/22
Papillon-Lefevre Disease - Preferred
Concept UI M0015840
Scope note Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.
Preferred term Papillon-Lefevre Disease
Entry term(s) Keratosis Palmoplantar Periodontopathies
Keratosis Palmoplantar Periodontopathy
Keratosis Palmoplantaris with Periodontopathia
Palmoplantar Periodontopathies, Keratosis
Papillon Lefevre Disease
Papillon Lefevre Syndrome
Papillon-Lefevre Syndrome
Haim-Monk Syndrome - Related but not broader or narrower
Concept UI M0533272
Preferred term Haim-Monk Syndrome
Entry term(s) Haim Monk Syndrome



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