PASS: a rare syndrome within the autoinflammatory diseases that still lacks a genetic marker

Schwob, Émilie; Bessis, Didier; Boursier, Guilaine; Kottler, Diane; Guillot, B.; Lerisson, Mathilde; Girard, C.

doi:10.1111/jdv.16385

Cited by 7 publications

(10 citation statements)

References 10 publications

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“…Mutations of the PSTPIP1 gene have been identified in the PAPA and PAPASH syndromes, but the genetic mutation of PASS remains unclear. No genetic mutation was found in the eight cases of PASS syndrome that have been previously described (two reported patients refused gene detection) 1,8–11 …”

Section: Discussionmentioning

confidence: 98%

“…No genetic mutation was found in the eight cases of PASS syndrome that have been previously described (two reported patients refused gene detection). 1,[8][9][10][11] However, successful treatments for PASS have been recently reported, including anakinr, adalimumab, infliximab, and etanercept. 1,[8][9][10][11] Further encouragingly, our patient who was treated with secukinumab showed a remarkable response with almost complete clinical improvement and without side effects reported during 2 years of follow-up.…”

Section: Discussionmentioning

confidence: 99%

“…1,[8][9][10][11] However, successful treatments for PASS have been recently reported, including anakinr, adalimumab, infliximab, and etanercept. 1,[8][9][10][11] Further encouragingly, our patient who was treated with secukinumab showed a remarkable response with almost complete clinical improvement and without side effects reported during 2 years of follow-up.…”

Section: Discussionmentioning

confidence: 99%

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Secukinumab for PASS syndrome: A new choice for therapeutic challenge?

Xiang

Liang

et al. 2022

Dermatologic Therapy

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PASS syndrome is a rare inflammatory disease characterized by a chronic‐relapsing course of pyoderma gangrenosum, acne vulgaris, hidradenitis suppurativa, and spondyloarthritis, which is lack of any biological or genetic marker. Moreover, the optimal therapeutic management remains unclear. We herein describe a Yi Chinese man with PASS syndrome who was treated with secukinumab and showed a remarkable response with almost complete clinical improvement at the 2‐year follow‐up.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Secukinumab for PASS syndrome: A new choice for therapeutic challenge?

Xiang

Liang

et al. 2022

Dermatologic Therapy

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“… 17–19 In addition, pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome; pyoderma gangrenosum, acne, hidradenitis suppurativa, and spondyloarthritis (PASS) syndrome; and pachydermoperiostosis (PDP) are all rare diseases with acne and osteoarticular involvement. Therefore, the candidate genes chosen to perform Sanger sequencing were the genes of the gamma-secretase subunits ( NCSTN, PSEN1, PSEN2 , and PSENEN ); 20 PSTPIP2 , PAPA-related gene ( PSTPIP1 ); 21 PASS-related gene ( NLRP3 ); 22 and PDP-related gene ( SLCO2A1 ). 23 Unfortunately, we did not identify any pathogenic mutations in this pedigree by WES or Sanger sequencing.…”

Section: Discussionmentioning

confidence: 99%

Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome with Cutis Verticis Gyrata: Case Report and Review of Literature

Wang¹,

Wang²,

Wang³

et al. 2022

CCID

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SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome is a rare disease clinically characterized by a wide range of cutaneous and osteoarticular manifestations. Here, we report a case of SAPHO syndrome with cutis verticis gyrata (CVG) and investigated the genetic causes in the four members of this pedigree. After failure of conventional treatments, a recombinant human TNF-α receptor II:IgG Fc fusion protein (rhTNFR:Fc, YISAIPU ® ) achieved good control of the disease at the 2-year follow-up. We did not identify any pathogenic mutation in this pedigree. We also summarized the clinical and therapeutic characteristics of 83 patients with SAPHO syndrome through the China National Knowledge Infrastructure (CKNI) database from 2016 to 2021. Patients with acne were young and predominantly male. About 45.8% patients were treated with biological therapies or traditional Chinese medicine (TCM), 84.2% of which showed positive effects against cutaneous and osteoarticular manifestations. We report a case of SAPHO syndrome with CVG that was successfully treated with rhTNFR:Fc. Our results reveal the genetic heterogeneity involved. Biologics and TCM are likely alternative options for the treatment of SAPHO syndrome.

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“…Phenotyping in AIS is ill-defined, but despite heterogeneity, there are similar features. For example, HS lesions affected predominantly flexural sites, while PASH, PAPASH 114,116,[119][120][121][122][123][124][125][126] and PASS 120,[127][128][129][130] also exhibited atypical localisations (neck/nape, back, chest, scalp, extremities). Lesions were most frequently abscesses, nodules, fistulae, sinus tracts and scars in PASH and PsAPA-SH, 120,[131][132][133] with no specific patterns for PASS or PAPASH.…”

Section: Syndromic Hidradenitis Suppurativa: a Conundrum In Phenotypi...mentioning

confidence: 99%

Hidradenitis suppurativa: Detangling phenotypes and identifying common denominators

Vișan,

Căruntu,

Costache

et al. 2023

Acad Dermatol Venereol

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Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with a severe impact on patients' quality of life through its recurrent and painful nature, as well as its comorbidity burden. The shift in the pathogenic paradigm from a condition of the apocrine glands to an autoinflammatory disease associated with follicular destruction has rendered its understanding difficult, as there are still large gaps in pinpointing the underlying mechanisms, which cannot currently explain the existing clinical variation and as a result, translate into suboptimal therapy. Multifactorial involvement is hypothesized, with an implication of genetic mutations, microbiome dysbiosis, cytokine upregulation and environmental factors. Clinical observation is fundamental for diagnosis, however, the marked heterogeneity in presentation leads to delays in detection and challenges in treatment selection, showcasing clear limits in defining the link between genetic aspects of HS, the role of epigenetic factors and its pathogenic pathways. There have been attempts to formulate phenotypes that could aid in prognostication and management, however, current classification schemata show significant overlap and no validation through longitudinal studies. In this context, nomenclature poses a great challenge due to the lack of global agreement in the definition of lesions, which should be addressed by future research to enable simplified recognition and allow for more precise severity scoring. This could be complemented by the addition of extra dermatologic findings or paraclinical assessment in constructing phenotypes. The development of valid, predictive and reliable classifications of HS may lead to an improvement in comprehending its pathophysiology, favouring a more personalized approach in management. This could be achieved through consensus in the characterization of clinical features and data gathering, as well as validation attempts for described phenotypes. Ultimately, the genotype‐endotype‐phenotype correlation in HS requires targeted, systematic inquiries and should be addressed more largely to broaden the perspective on this debilitating entity.

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PASS: a rare syndrome within the autoinflammatory diseases that still lacks a genetic marker

Cited by 7 publications

References 10 publications

Secukinumab for PASS syndrome: A new choice for therapeutic challenge?

Secukinumab for PASS syndrome: A new choice for therapeutic challenge?

Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome with Cutis Verticis Gyrata: Case Report and Review of Literature

Hidradenitis suppurativa: Detangling phenotypes and identifying common denominators

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