Papillon-Lefèvre syndrome: report of three cases in the same family.
Turk J Pediatr
; 54(2): 171-6, 2012.
Article
em En
| MEDLINE
| ID: mdl-22734305
Papillon-Lefèvre syndrome is a rare autosomal recessive disorder caused by cathepsin C gene mutation leading to the deficiency of cathepsin C enzymatic activity. The disease is characterized by palmoplantar hyperkeratosis, periodontopathy and precocious loss of dentition, and increased susceptibility to infections. Pyogenic liver abscess is an increasingly recognized complication. Three cases of Papillon-Lefevre syndrome in the same family are presented here. Two of the three siblings presented with characteristic manifestations of the syndrome. The third case had died previously due to liver abscess prior to a diagnosis of Papillon-Lefèvre syndrome.
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Base de dados:
MEDLINE
Assunto principal:
Doença de Papillon-Lefevre
/
Irmãos
Limite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Turk J Pediatr
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Turquia