PAPA syndrome
| PAPA syndrome | |
|---|---|
| Other names | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome autosomal dominant pattern. |
PAPA syndrome is a rare
Signs and symptoms
PAPA syndrome usually begins with arthritis at a young age, with the skin changes more prominent from the time of puberty.[4]
The
traumatic event. With repeated episodes the joints become damaged with multiple joint replacements required. Hopefully, with improved treatment options, the damage will be limited in new cases.[citation needed
]
intravenous drip insertion.[citation needed
]
scarring.[citation needed
]
Genetics
PAPA syndrome is inherited in an
autosomal dominant
fashion, which means that if one parent is affected, there is a 100% chance that a child will inherit the disease from a homozygous affected parent and a 50% chance that a
child will inherit the disease from an affected heterozygous parent.[citation needed]
The responsible gene has been identified on
CD2BP1).[8]
This protein is part of an inflammatory pathway associated with other familial cold urticaria.[9]
Diagnosis
Clinical features along with the
familial tendency may be enough to make a diagnosis. Genetic testing may also be used.[citation needed
]
Treatment
Acne treatment may require oral
interleukin-1 (anakinra) have shown a good response in resistant arthritis and pyoderma gangrenosum.[10][11][12] Other traditional immunosuppressant treatments for arthritis or pyoderma gangrenosum may also be used.[citation needed
]
See also
- SAPHO syndrome
- Psoriatic arthritis
- List of cutaneous conditions
References
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Pyogenic arthritis pyoderma gangrenosum acne syndrome". www.orpha.net. Retrieved 27 April 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT. A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA Syndrome. Mayo Clin Proc 1997; 72:611-5.
- ^ McDermott MF, Aksentijevich I. The Autoinflammatory syndromes. Curr Opin Allergy Clin Immunol 2002; 2(6): 511-516.
- S2CID 34643625.
- ^ Yeon HB, Lindor HM, Seidman JG, Seidman CE et al.Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q. Am J Hum Genet 2000; 66:1443-8.
- ^ Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT. A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA Syndrome. Mayo Clin Proc 1997; 72:611-5.
- ^ Wise CA, Bennett LB, Pascual V, Gillum JD, Bowcock AM. Localization of a gene for familial recurrent arthritis. Arthritis Rheum. 2000 Sep; 43(9):2041-5.
- ^ Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet. 2002 Apr 15; 11(8): 961-9
- ^ Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA, Kastner DL. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci USA. 2003 Nov 11; 100(23): 13501-6.
- ^ Stichweh DS, Punaro M, Pascual V. Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA Syndrome. 2005 May-Jun; 22(3): 262-5.
- ^ Cortis E, De Benedetti F, Insalaco A, Cioschi S, Muratori F, D’Urbano LE, Ugazio AG. Abnormal production of the tumor necrosis factor alpha and clinical efficacy of the TNF Inhibitor Etanercept in a patient with PAPA syndrome. J Pediatr. 2004 Dec; 145 (6): 851-5. Erratum in: J Pediatr. 2005 Feb; 146(2):193.
- ^ Dierselhuis MP, Frenkel J, Wulffraat NM, Boelens JJ. Anakinra for flares of pyogenic arthritis in PAPA syndrome. Rheumatology (Oxford). 2005 Jan 5;(Epub ahead of print)