PAPA syndrome

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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:

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

  1. ↑ a b c d e f Pyogenic Arthritis - Pyoderma gangrenosum - Acne. In: Orphanet (Rare Disease Database).
  2. ↑ Encyclopedia of Dermatology
  3. ↑ 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 .
  4. ↑ Pyogenic sterile arthritis, pyoderma gangrenosum, and acne.  In: Online Mendelian Inheritance in Man . (English)

Web links