Information on PAPA
Basic details
Name: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | Acronym: PAPA
Alt. names: PAPA syndrome
Gene: PSTPIP1 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2002
Last updated on: 2023-02-28 16:41:18 by
Description
It is an autoinflammatory disease that typically presents with recurrent sterile, erosive arthritis in childhood, occurring spontaneously or after minor trauma, occasionally resulting in significant joint destruction. By puberty, joint symptoms tend to subside and cutaneous symptoms predominate, including pathergy, frequently with abscesses at the sites of injections, severe cystic acne, and recurrent nonhealing sterile ulcers, often diagnosed as pyoderma gangrenosum (summary by Demidowich et al., 2012).[source:OMIM]
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Acne vulgaris |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Sterile arthritis |
9 (90.0%) | 0 (0.0%) | 1 (10.0%) |
| 3 | Cystic acne |
7 (70.0%) | 0 (0.0%) | 3 (30.0%) |
| 4 | Allergy |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Arthritis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Cellulitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Colitis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Elbow flexion contracture |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Elevated C-reactive protein |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Hepatosplenomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Knee flexion contracture |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Microcytic anemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Pyoderma gangrenosum |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Thrombocytosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.