PAPA syndrome
Classification according to ICD-10 | |
---|---|
M04.8 | Other autoinflammatory syndromes |
ICD-10 online (WHO version 2019) |
The PAPA syndrome , acronym for P yogene A Arthritis , P yoderma Gangrenosum and A kne , is a rare autoinflammatory congenital disease of childhood of the joints and the skin with the name picture features.
Synonyms are: arthritis, familial recurrent
The name was suggested by the authors of the first description from 1997 by Noralane M. Lindor et al .
distribution
The frequency is given as less than 1 in 1,000,000, and fewer than 40 patients have been reported to date. The inheritance is autosomal dominant .
root cause
Of the disease are mutations in PSTPIP1 (CD2BP1) - gene on chromosome 15 locus q24.3 based on the serine-threonine phosphatase interacting protein 1 for the proline (formerly CD2 binding protein 1) coded.
Clinical manifestations
Clinical criteria are:
- Combination of pyogenic arthritis , pyoderma gangrenosum and acne
- self-limiting disease
- pronounced joint destruction is possible
- spontaneously or after minor trauma
- purulent but sterile joint effusion
Differential diagnosis
Must be distinguished are the Juvenile idiopathic arthritis and periodic fever syndromes .
therapy
The treatment can be carried out with glucocorticoids , inhibitors for tumor necrosis factor ( etanercept ) or with the interleukin 1 receptor antagonist anakinra .
literature
- CN Renn, A. Helmer, M. Megahed: Pyogenic arthritis, pyoderma gangrenosum and acne syndrome (PAPA syndrome). In: The dermatologist ; Journal of Dermatology, Venereology, and Allied Fields. Vol. 58, No. 5, May 2007, pp. 383-384, doi: 10.1007 / s00105-007-1331-z , PMID 17447041 .
- AP Demidowich, AF Freeman, DB Kuhns, I. Aksentijevich, JI Gallin, ML Turner, DL Kastner, SM Holland: Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). In: Arthritis and rheumatism. Vol. 64, No. 6, June 2012, pp. 2022–2027, doi: 10.1002 / art.34332 , PMID 22161697 , PMC 3737487 (free full text).
- EJ Smith, F. Allantaz, L. Bennett, D. Zhang, X. Gao, G. Wood, DL Kastner, M. Punaro, I. Aksentijevich, V. Pascual, CA Wise: Clinical, Molecular, and Genetic Characteristics of PAPA Syndromes: A Review. In: Current genomics. Vol. 11, No. 7, November 2010, pp. 519-527, doi: 10.2174 / 138920210793175921 , PMID 21532836 , PMC 3048314 (free full text).
Individual evidence
- ↑ a b c d e f Pyogenic Arthritis - Pyoderma gangrenosum - Acne. In: Orphanet (Rare Disease Database).
- ↑ Encyclopedia of Dermatology
- ↑ NM Lindor, TM Arsenault, H. Solomon, CE Seidman, MT McEvoy: A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. In: Mayo Clinic proceedings. Vol. 72, No. 7, July 1997, pp. 611-615, doi: 10.1016 / S0025-6196 (11) 63565-9 , PMID 9212761 .
- ↑ Pyogenic sterile arthritis, pyoderma gangrenosum, and acne. In: Online Mendelian Inheritance in Man . (English)