pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome PAPA症候群

同: PAPA

WordNet

deficient in originality or creativity; lacking powers of invention; "a sterile ideology lacking in originality"; "unimaginative development of a musical theme"; "uninspired writing" (同)unimaginative, uninspired, uninventive
incapable of reproducing; "an infertile couple" (同)unfertile, infertile
an inflammatory disease involving the sebaceous glands of the skin; characterized by papules or pustules or comedones
inflammation of a joint or joints
(of complexion) blemished by imperfections of the skin (同)pimpled, pimply, pustulate
producing pus

PrepTutorEJDIC

不妊の,子を生まない(barren) / (土地が)不毛の,やせた(barren) / 無菌の,殺菌した / (考え方・話などが)想像力に乏しい,ありきたりの,陳腐な
にきび(pimple)
関節炎

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/17 21:39:00」(JST)

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PAPA syndrome is an acronym for pyogenic arthritis, pyoderma gangrenosum and acne. It is a rare genetic disorder characterised by its effects on skin and joints.^[1]^[2]

Genetics

PAPA syndrome is inherited in an autosomal dominant pattern.

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 an homozygous affected parent, and a 50% chance that a child will inherit the disease from an affected heterozygous parent.

Recently the responsible gene has been identified on Chromosome 15.^[3]^[4]^[5] Two mutations have been found in a protein called CD2 binding protein 1 (CD2BP1).^[6] This protein is part of an inflammatory pathway associated with other autoinflammatory diseases such as familial Mediterranean fever, Hyperimmunoglobulinemia D with recurrent fever, Muckle-Wells syndrome, neonatal onset multisystem inflammatory disease and familial cold urticaria.^[7]

Diagnosis

Clinical features along with the familial tendency may be enough to make a diagnosis. Genetic testing may also be used.^{[citation needed]}

Clinical Features

It usually begins with arthritis at a young age, with the skin changes more prominent from the time of puberty.

The arthritis is the predominant feature, noted by its juvenile onset and destructive course. Individuals often recall episodes of arthritis precipitated by a 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.

Pyoderma gangrenosum is variably expressed, which means that it is not always present in all individuals with the disease. It presents as poorly healing ulcers with undermined edges. Pathergy is an important feature (this term refers to the tendency of ulcers to arise at points of injury). There are reports of lesions developing at the site of a joint replacement wound, central venous line and intravenous drip insertion.

Acne affects most individuals with PAPA syndrome but to a variable degree. It is usually of a severe nodulocystic type which if untreated results in scarring.^{[citation needed]}

Treatment

Acne treatment may require oral tetracycline antibiotics or isotretinoin. Treatments directed at tumour necrosis factor (TNF) (infliximab, etanercept) and interleukin-1 (anakinra) have shown a good response in resistant arthritis and pyoderma gangrenosum.^[8]^[9]^[10] Other traditional immunosuppressant treatments for arthritis or pyoderma gangrenosum may also be used.

References

^ 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.
^ 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 tumour 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)

UpToDate Contents

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1. 壊疽性膿皮症：病因、臨床症状、および診断 pyoderma gangrenosum pathogenesis clinical features and diagnosis
2. 尋常性ざ瘡の病因、臨床症状、および診断 pathogenesis clinical manifestations and diagnosis of acne vulgaris
3. 周期性発熱症候群およびその他の自己炎症性疾患：概要 periodic fever syndromes and other autoinflammatory diseases an overview
4. 好中球性皮膚症 neutrophilic dermatoses
5. 汗腺膿瘍（にきび）の病因、臨床的特徴、および診断 pathogenesis clinical features and diagnosis of hidradenitis suppurativa acne inversa

English Journal

Pediatric pyoderma gangrenosum: a systematic review and update.

Kechichian E1,2, Haber R1,2, Mourad N1,2, El Khoury R1,2, Jabbour S2,3, Tomb R2,4.
International journal of dermatology.Int J Dermatol.2017 May;56(5):486-495. doi: 10.1111/ijd.13584. Epub 2017 Feb 23.
PMID 28233293

Autoinflammatory syndromes associated with hidradenitis suppurativa and/or acne.

Vinkel C1, Thomsen SF1,2.
International journal of dermatology.Int J Dermatol.2017 Mar 27. doi: 10.1111/ijd.13603. [Epub ahead of print]
PMID 28345207

A case of autoinflammatory skin and bone disease flared by a change in osteoporosis management.

Heard LK1, Richardson VN1, Lewis CM1, Davis LS1.
JAAD case reports.JAAD Case Rep.2017 Mar 10;3(2):103-105. doi: 10.1016/j.jdcr.2017.01.004. eCollection 2017 Mar.
PMID 28337469

Japanese Journal

自己炎症疾患

臨床免疫・アレルギー科 = Clinical immunology & allergology 65(1), 94-98, 2016-01
NAID 40020720028

Autoinflammatory diseases and the inflammasome: mechanisms of IL-1β activation leading to neutrophil-rich skin disorders

Inflammation and Regeneration 31(1), 72-80, 2011
NAID 130004943774

「pyogenic」

PAPA syndrome
Classification and external resources
OMIM	604416
DiseasesDB	32724

　　[★]

adj.

化膿性の

関: purulent、pyogenes、suppurative

「acnes」

　　[★]

Propionibacterium acnes

[1] 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.

[2] McDermott MF, Aksentijevich I. The Autoinflammatory syndromes. Curr Opin Allergy Clin Immunol 2002; 2(6): 511-516.

[3] 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.

[4] 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.

[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.

[6] 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

[7] 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.

[8] 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.

[9] Cortis E, De Benedetti F, Insalaco A, Cioschi S, Muratori F, D’Urbano LE, Ugazio AG. Abnormal production of the tumour 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.

[10] 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)

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pyogenic sterile arthritis, pyoderma gangrenosum, acne