Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature.
Pediatr Radiol
; 49(1): 23-36, 2019 01.
Article
en En
| MEDLINE
| ID: mdl-30225645
ABSTRACT
Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome is a rare autosomal-dominant autoinflammatory disease of incomplete penetrance and variable expression. PAPA syndrome is the result of a mutation in the proline serine threonine phosphatase-interacting protein 1 (PSTPIP1/CD2BP1) gene located on chromosome 15, which results in an abnormal overproduction of the pro-inflammatory cytokine interleukin-1ß (IL-1). This syndrome clinically manifests as early onset of recurrent episodes of acute aseptic inflammation of the joints, generally occurring in the first two decades of life, followed by manifestation of characteristic skin lesions in the third decade, after an obvious decline in the joint symptoms. Although uncommon, the potential clinical implications of PAPA syndrome warrant an appropriate diagnosis in a timely fashion.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Artritis Infecciosa
/
Piodermia Gangrenosa
/
Acné Vulgar
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Radiol
Año:
2019
Tipo del documento:
Article
País de afiliación:
Canadá