Papillon-Lefevre syndrome: a case report of two siblings and review of the literature
JPAD-Journal of Pakistan Association of Dermatologists. 2014; 24 (1): 93-95
em Inglês
| IMEMR
| ID: emr-157650
ABSTRACT
Papillon-Lefevre syndrome is a rare autosomal recessive genodermatosis which is characterised by periodontitis, palmoplantar keratoderma and predisposition to pyogenic infections and occurs due to cathepsin C gene mutation [located on chromosome11].The loss of primary teeth usually occurs by the age of 4 years and secondary teeth by second decade. The disorder is associated with significant cosmetic and functional disability
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Periodontite Agressiva
/
Dente Decíduo
/
Literatura de Revisão como Assunto
/
Ceratodermia Palmar e Plantar
/
Catepsina C
/
Irmãos
/
Mutação
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
J. Pak. Assoc. Dermatol.
Ano de publicação:
2014
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