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Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q.

ABSTRACT: Pyoderma gangrenosum, cystic acne, and aseptic arthritis are clinically distinct disorders within the broad class of inflammatory diseases. Although this triad of symptoms is rarely observed in a single patient, a three-generation kindred with autosomal-dominant transmission of these three disorders has been reported as "PAPA syndrome" (MIM 604416). We report mapping of a disease locus for familial pyoderma gangrenosum-acne-arthritis to the long arm of chromosome 15 (maximum two-point LOD score, 5.83; recombination fraction [straight theta] 0 at locus D15S206). Under the assumption of complete penetrance, haplotype analysis of recombination events defined a disease interval of 10 cM, between D15S1023 and D15S979. Successful identification of a single disease locus for this syndrome suggests that these clinically distinct disorders may share a genetic etiology. These data further indicate the role of genes outside the major histocompatibility locus in inflammatory disease.

SUBMITTER: Yeon HB

PROVIDER: S-EPMC1288212 | biostudies-literature | 2000 Apr

REPOSITORIES: biostudies-literature

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Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q.

Yeon H B HB Lindor N M NM Seidman J G JG Seidman C E CE

American journal of human genetics 20000321 4

Pyoderma gangrenosum, cystic acne, and aseptic arthritis are clinically distinct disorders within the broad class of inflammatory diseases. Although this triad of symptoms is rarely observed in a single patient, a three-generation kindred with autosomal-dominant transmission of these three disorders has been reported as "PAPA syndrome" (MIM 604416). We report mapping of a disease locus for familial pyoderma gangrenosum-acne-arthritis to the long arm of chromosome 15 (maximum two-point LOD score, ...[more]

PMID: 10729114

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Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome in a Chinese family: A case report and review of literature.

Project description:BackgroundPyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant genetic disease characterized by severe autoimmune inflammation, caused by mutations in the PSTPIP1 gene. Due to PAPA heterogeneous clinical manifestation, misdiagnosis or delayed diagnoses are difficult to avoid. With the use of whole-exome sequencing, we identified a missense mutation in the PSTPIP1 gene in a Chinese family. To the best of our knowledge, this is the first case of PAPA reported in China.Case summaryA 9-year-old boy suffered from recurrent aseptic pyogenic arthritis triggered by minor trauma or few obvious predisposing causes for more than 3 years. Pyogenic arthritis occurred every 3-5 mo, affecting his knees, elbows, and ankle joints. Treatments, such as glucocorticoids, antibiotics, even surgeries could alleviate joints pain and swelling to some extent but could not inhibit the recurrence of arthritis. Similar symptoms were present in his younger brother but not in his parents. According to the whole-exome sequencing, a missense mutation in exon 11 of the PSTPIP1 gene (c.748G>C; p.E250Q) was detected in the boy, his younger brother and his father. Taking into account the similar phenotypic features with PAPA syndrome reported previously, we confirmed a diagnosis of PAPA syndrome for the family.ConclusionIn this case, a missense mutation (c.748G>C; p.E250Q) in PSTPIP1 gene was identified in a Chinese family with PAPA syndrome. Previous studies emphasize the fact that PAPA syndrome is hard to diagnose just through the clinical manifestations owing to its heterogeneous expression. Genetic testing is an effectual auxiliary diagnostic method, especially in the early stages of pyogenic arthritis. Only if we have a deep understanding and rich experience of this rare disease can we make a prompt diagnosis, develop the best clinical treatment plan, and give good fertility guidance.

| S-EPMC8362586 | biostudies-literature

Case Report: Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne: A Single-Center Experience and Literature Review.

Project description:ObjectivesThis study aims to describe the characteristics of patients diagnosed with pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome at a single center in China and provide an up-to-date literature review.MethodsThe clinical data and genotype of three Chinese Han patients were carefully documented and studied. We also conducted a systematic literature review on PAPA syndrome.ResultsA total of three patients were diagnosed with PAPA syndrome at our center from 2018 to 2020. Arthritis was observed in all three patients, while pyoderma gangrenosum (PG) was found in two patients and acne in one patient. Other manifestations included pathergy reaction, intermittent fever, oral ulcer, keratitis, proteinuria, and hematuria. The PSTPIP1 A230T mutation was identified in two patients, and a novel Y119C variation was revealed in a sporadic patient. A total of 76 patients with PAPA syndrome reported in 29 articles were included in our literature review. The classical triad of arthritis, PG, and acne was visible in only 16 (25.4%) patients, while 24 (38.1%) exhibited only one major symptom. Skin lesions were more commonly seen in patients with adult-onset disease than those with childhood-onset disease (100 vs. 83%), whereas arthritis was less common (50 vs. 98.1%). Steroid and/or biological agents were effective in most patients.ConclusionsThe rarity and phenotypic heterogeneity associated with PAPA syndrome make the diagnosis a huge challenge to physicians, especially in adult patients. A significant portion of patients did not exhibit the full spectrum of the classical triad. Accordingly, gene testing is critically helpful for diagnosis.

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Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).

Project description:ObjectiveTo describe the genotypes, phenotypes, immunophenotypes, and treatments of PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne), a rare autoinflammatory disease, in 5 patients.MethodsClinical information was gathered from medical records and through interviews with 5 patients from 4 kindreds. PSTPIP1 (CD2BP1) exon 10 and exon 11 sequencing was performed in each patient. Neutrophil granule content and cytokine levels were determined in plasma and stimulated peripheral blood mononuclear cells (PBMCs) from patients and controls.ResultsWe identified 2 previously described PAPA syndrome-associated PSTPIP1 mutations, A230T and E250Q, and a novel change, E250K. Disease penetrance was incomplete, with variable expressivity. The cutaneous manifestations included pathergy, cystic acne, and pyoderma gangrenosum. Interleukin-1β (IL-1β) and circulating neutrophil granule enzyme levels were markedly elevated in patients compared to those in controls. PBMC stimulation studies demonstrated impaired production of IL-10 and enhanced production of granulocyte-macrophage colony-stimulating factor. Good resolution of pyoderma gangrenosum was achieved in 3 patients with tumor necrosis factor α (TNFα) blockade treatment.ConclusionThis analysis of 5 patients demonstrates that mutations in PSTPIP1 are incompletely penetrant and variably expressed in the PAPA syndrome. Neutrophil granule proteins are markedly elevated ex vivo and in the plasma, and elevated levels might be compatible with a diagnosis of PAPA syndrome. TNFα blockade appears to be effective in treating the cutaneous manifestations of PAPA syndrome.

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Pyoderma Gangrenosum as a Presenting Feature of Undifferentiated Spondyloarthropathy with Erosive Inflammatory Arthritis.

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| S-EPMC7136808 | biostudies-literature

Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.

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| S-EPMC4602806 | biostudies-literature

Pyoderma Gangrenosum After Bilateral Total Knee Arthroplasty.

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Pyoderma gangrenosum treated with secukinumab: A case report.

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Nasal septum perforation in patient with pyoderma gangrenosum.

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| S-EPMC4432544 | biostudies-other

Chronic renal comorbidities in pyoderma gangrenosum: a retrospective cohort study.

Project description:The coexistence of pyoderma gangrenosum (PG) and chronic renal comorbidities has been reported anecdotally. We aimed to assess the bidirectional association between PG and the following chronic renal comorbidities: chronic renal failure (CRF), dialysis, kidney transplantation (KT), and other kidney diseases (OKD). That is to evaluate (i) the risk of the aforementioned diseases among patients with PG (ii) and the odds of PG after a diagnosis of renal comorbidities. A population-based retrospective cohort study was conducted comparing PG patients (n=302) with age-, sex-, and ethnicity-matched control subjects (n=1497) with regard to incident cases of renal comorbidities. A case-control design was additionally adopted to estimate the odds of PG in those with a preexisting history of renal comorbidities. Adjusted hazard ratios (HRs) and adjusted odds ratios (ORs) were estimated by Cox regression and logistic regression, respectively. Patients with PG demonstrated an increased risk of CRF (adjusted HR, 3.68; 95% CI, 2.72-5.97), dialysis (adjusted HR, 27.79; 95% CI, 3.24-238.14), and OKD (adjusted HR, 2.71; 95% CI, 1.55-4.74). In addition, the odds of PG were increased after the diagnosis of CRF (adjusted OR, 2.34; 95% CI, 1.33-4.11), KT (adjusted OR, 5.03; 95% CI, 1.01-25.12), and OKD (adjusted OR, 1.69; 95% CI, 1.04-2.74). Patients with a dual diagnosis of PG and renal diseases presented with PG at an older age and had a higher prevalence of comorbid conditions. In conclusion, a bidirectional association exists between PG and chronic renal conditions. Awareness of this comorbidity may be of benefit for physicians managing patients with PG.

| S-EPMC8266709 | biostudies-literature

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