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Pyogenic arthritis-pyoderma gangrenosum-acne syndrome(PAPAS; FRA)

MedGen UID:
346801
Concept ID:
C1858361
Disease or Syndrome
Synonyms: Familial recurrent arthritis; Pyogenic arthritis, pyoderma gangrenosum and acne; Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne; Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne
SNOMED CT: Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (724015007); Familial recurrent arthritis (724015007); PAPA (pyogenic arthritis, pyoderma gangrenosum, acne) syndrome (724015007); PAPA syndrome (724015007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): PSTPIP1 (15q24.3)
 
Monarch Initiative: MONDO:0011462
OMIM®: 604416
Orphanet: ORPHA69126

Definition

A rare pleiotropic auto-inflammatory disorder of childhood, primarily affecting the joints and skin. The first affected family contained ten affected members from three generations and manifested variable expression of a pauciarticular, nonaxial, arthritis that began in childhood; pyoderma gangrenosum; and severe cystic acne in adolescence and beyond. Recurrent sterile arthritis usually occurs after minor trauma, but can also occur spontaneously. PAPA syndrome is a self-limiting disease, but it can lead to severe joint destruction. The gene responsible for the syndrome is the proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1). [from SNOMEDCT_US]

Clinical features

From HPO
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
Knee flexion contracture
MedGen UID:
98042
Concept ID:
C0409355
Finding
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Colitis
MedGen UID:
40385
Concept ID:
C0009319
Disease or Syndrome
Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Thrombocytosis
MedGen UID:
163397
Concept ID:
C0836924
Disease or Syndrome
Increased numbers of platelets in the peripheral blood.
Microcytic anemia
MedGen UID:
1673948
Concept ID:
C5194182
Disease or Syndrome
A kind of anemia in which the volume of the red blood cells is reduced.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
Cellulitis
MedGen UID:
40174
Concept ID:
C0007642
Finding
A bacterial infection and inflammation of the skin und subcutaneous tissues.
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
Knee flexion contracture
MedGen UID:
98042
Concept ID:
C0409355
Finding
Sterile arthritis
MedGen UID:
1374751
Concept ID:
C4477044
Disease or Syndrome
An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.
Colitis
MedGen UID:
40385
Concept ID:
C0009319
Disease or Syndrome
Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.
Cystic acne
MedGen UID:
507614
Concept ID:
C0010666
Disease or Syndrome
A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Allergy
MedGen UID:
9370
Concept ID:
C0020517
Pathologic Function
An allergy is an immune response or reaction to substances that are usually not harmful.
Sterile abscess
MedGen UID:
639046
Concept ID:
C0541754
Acquired Abnormality
An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.
Acne
MedGen UID:
152379
Concept ID:
C0702166
Disease or Syndrome
A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
Elevated circulating C-reactive protein concentration
MedGen UID:
892906
Concept ID:
C4023452
Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.
Cystic acne
MedGen UID:
507614
Concept ID:
C0010666
Disease or Syndrome
A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.
Pyoderma gangrenosum
MedGen UID:
43224
Concept ID:
C0085652
Disease or Syndrome
Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.
Acne
MedGen UID:
152379
Concept ID:
C0702166
Disease or Syndrome
A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPyogenic arthritis-pyoderma gangrenosum-acne syndrome
Follow this link to review classifications for Pyogenic arthritis-pyoderma gangrenosum-acne syndrome in Orphanet.

Recent clinical studies

Etiology

Zeeli T, Padalon-Brauch G, Ellenbogen E, Gat A, Sarig O, Sprecher E
Clin Exp Dermatol 2015 Jun;40(4):367-72. Epub 2015 Feb 16 doi: 10.1111/ced.12585. PMID: 25683018
Fathalla BM, Al-Wahadneh AM, Al-Mutawa M, Kambouris M, El-Shanti H
Clin Exp Rheumatol 2014 Nov-Dec;32(6):956-8. Epub 2014 Jun 24 PMID: 24960411

Diagnosis

Kawanishi K, Nishiwaki H, Oshiro T, Kajitani H, Amagasa M, Uehara N, Inoue Y, Nagahama M, Koiwa F
Mod Rheumatol Case Rep 2021 Jul;5(2):333-336. Epub 2021 Mar 9 doi: 10.1080/24725625.2021.1881216. PMID: 33560194
Ursani MA, Appleyard J, Whiteru O
Am J Case Rep 2016 Aug 17;17:587-91. doi: 10.12659/ajcr.898027. PMID: 27530224Free PMC Article
Zeeli T, Padalon-Brauch G, Ellenbogen E, Gat A, Sarig O, Sprecher E
Clin Exp Dermatol 2015 Jun;40(4):367-72. Epub 2015 Feb 16 doi: 10.1111/ced.12585. PMID: 25683018
Fathalla BM, Al-Wahadneh AM, Al-Mutawa M, Kambouris M, El-Shanti H
Clin Exp Rheumatol 2014 Nov-Dec;32(6):956-8. Epub 2014 Jun 24 PMID: 24960411
Braun-Falco M, Kovnerystyy O, Lohse P, Ruzicka T
J Am Acad Dermatol 2012 Mar;66(3):409-15. Epub 2011 Jul 13 doi: 10.1016/j.jaad.2010.12.025. PMID: 21745697

Therapy

Fathalla BM, Al-Wahadneh AM, Al-Mutawa M, Kambouris M, El-Shanti H
Clin Exp Rheumatol 2014 Nov-Dec;32(6):956-8. Epub 2014 Jun 24 PMID: 24960411

Prognosis

Zeeli T, Padalon-Brauch G, Ellenbogen E, Gat A, Sarig O, Sprecher E
Clin Exp Dermatol 2015 Jun;40(4):367-72. Epub 2015 Feb 16 doi: 10.1111/ced.12585. PMID: 25683018

Clinical prediction guides

Kawanishi K, Nishiwaki H, Oshiro T, Kajitani H, Amagasa M, Uehara N, Inoue Y, Nagahama M, Koiwa F
Mod Rheumatol Case Rep 2021 Jul;5(2):333-336. Epub 2021 Mar 9 doi: 10.1080/24725625.2021.1881216. PMID: 33560194
Zeeli T, Padalon-Brauch G, Ellenbogen E, Gat A, Sarig O, Sprecher E
Clin Exp Dermatol 2015 Jun;40(4):367-72. Epub 2015 Feb 16 doi: 10.1111/ced.12585. PMID: 25683018
Yeon HB, Lindor NM, Seidman JG, Seidman CE
Am J Hum Genet 2000 Apr;66(4):1443-8. Epub 2000 Mar 21 doi: 10.1086/302866. PMID: 10729114Free PMC Article

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