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[Papillon-Lefèvre syndrome. Presentation of a case].

Identifieur interne : 005965 ( PubMed/Curation ); précédent : 005964; suivant : 005966

[Papillon-Lefèvre syndrome. Presentation of a case].

Auteurs : M. Reynaldo Arosemena ; R. Abdiel Le N

Source :

Medicina cutanea ibero-latino-americana [ 0210-5187 ] ; 1984.

RBID : pubmed:6237237

Descripteurs français

KwdFr :
- Bouche édentée (étiologie), Calcinose (imagerie diagnostique), Crâne (imagerie diagnostique), Enfant d'âge préscolaire, Gènes récessifs, Humains, Kératose palmoplantaire (génétique), Maladie de Papillon-Lefèvre (anatomopathologie), Maladie de Papillon-Lefèvre (génétique), Mâle, Radiographie, Syndrome.
MESH :
- anatomopathologie : Maladie de Papillon-Lefèvre.
- génétique : Kératose palmoplantaire, Maladie de Papillon-Lefèvre.
- imagerie diagnostique : Calcinose, Crâne.
- étiologie : Bouche édentée.
- Enfant d'âge préscolaire, Gènes récessifs, Humains, Mâle, Radiographie, Syndrome.

English descriptors

KwdEn :
- Calcinosis (diagnostic imaging), Child, Preschool, Genes, Recessive, Humans, Keratoderma, Palmoplantar (genetics), Male, Mouth, Edentulous (etiology), Papillon-Lefevre Disease (genetics), Papillon-Lefevre Disease (pathology), Radiography, Skull (diagnostic imaging), Syndrome.
MESH :
- diagnostic imaging : Calcinosis, Skull.
- etiology : Mouth, Edentulous.
- genetics : Keratoderma, Palmoplantar, Papillon-Lefevre Disease.
- pathology : Papillon-Lefevre Disease.
- Child, Preschool, Genes, Recessive, Humans, Male, Radiography, Syndrome.

Abstract

The authors report a case of hyperkeratosis palmoplantaris with periodontosis (Papillon-Lefèvre syndrome) in a five year old male patient. This patient showed hyperkeratosis over palms, soles, knees and premature periodontoclasia. No other abnormalities were detected on physical examination and the personal and familial antecedents were negative. There is no history of consanguinity of his parents. Roentgenographic examination of his skull did not reveal ectopic calcification of the falk cerebri or tentorium. The skin biopsy of the lesions exhibit marked hyperkeratosis, acantosis and a moderate perivascular infiltrate composed mainly of mononuclears, localized in the upper dermis. The corium showed a mild atrophy. We assumed that this case resulted from homozygosity for autosomal recessive genes. Considering this is the first case detected in Panama with a population near two millions habitant, it supports the low frequency of the disorder, estimated roughly at one to four per million persons in the general population, according Gorlin et al.

PubMed: 6237237

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Le document en format XML

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<term>Syndrome</term>
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<term>Gènes récessifs</term>
<term>Humains</term>
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<front><div type="abstract" xml:lang="en">The authors report a case of hyperkeratosis palmoplantaris with periodontosis (Papillon-Lefèvre syndrome) in a five year old male patient. This patient showed hyperkeratosis over palms, soles, knees and premature periodontoclasia. No other abnormalities were detected on physical examination and the personal and familial antecedents were negative. There is no history of consanguinity of his parents. Roentgenographic examination of his skull did not reveal ectopic calcification of the falk cerebri or tentorium. The skin biopsy of the lesions exhibit marked hyperkeratosis, acantosis and a moderate perivascular infiltrate composed mainly of mononuclears, localized in the upper dermis. The corium showed a mild atrophy. We assumed that this case resulted from homozygosity for autosomal recessive genes. Considering this is the first case detected in Panama with a population near two millions habitant, it supports the low frequency of the disorder, estimated roughly at one to four per million persons in the general population, according Gorlin et al.</div>
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<Abstract><AbstractText>The authors report a case of hyperkeratosis palmoplantaris with periodontosis (Papillon-Lefèvre syndrome) in a five year old male patient. This patient showed hyperkeratosis over palms, soles, knees and premature periodontoclasia. No other abnormalities were detected on physical examination and the personal and familial antecedents were negative. There is no history of consanguinity of his parents. Roentgenographic examination of his skull did not reveal ectopic calcification of the falk cerebri or tentorium. The skin biopsy of the lesions exhibit marked hyperkeratosis, acantosis and a moderate perivascular infiltrate composed mainly of mononuclears, localized in the upper dermis. The corium showed a mild atrophy. We assumed that this case resulted from homozygosity for autosomal recessive genes. Considering this is the first case detected in Panama with a population near two millions habitant, it supports the low frequency of the disorder, estimated roughly at one to four per million persons in the general population, according Gorlin et al.</AbstractText>
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[Papillon-Lefèvre syndrome. Presentation of a case].

[Papillon-Lefèvre syndrome. Presentation of a case].

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki