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http://dx.doi.org/10.1007/s10875-022-01265-x | DOI Listing |
Ann Rheum Dis
March 2025
Pediatric Hematology-Immunology and Rheumatology Department, Assistance Publique Hôpitaux de Paris (APHP), Necker University Hospital, Paris, France; Université Paris Cité, Paris, France; National Reference Centre for Rheumatic, Autoimmune Diseases and Systemic Interferonopathies in Children (RAI
Pediatr Dermatol
November 2024
Department of Dermatology, Stanford School of Medicine, Palo Alto, California, USA.
PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare autoinflammatory disorder often arising in pediatric patients. We present a case of an 18-year-old female with a past medical history of growth failure, immunoglobulin A nephropathy, and inflammatory arthritis who presented to a pediatric dermatology clinic with findings of acne, psoriasiform dermatitis, and hidradenitis suppurativa, whose clinical, genetic, and laboratory findings were most consistent with PAMI syndrome. We conducted a literature review to better characterize this rare condition in the context of dermatologic findings.
View Article and Find Full Text PDFJ Clin Pathol
January 2025
Department of Pathology, Nanfang Hospital & School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China
Acta Medica (Hradec Kralove)
April 2025
Department of Dermatology and Venereology, Medical Institute of Ministry of Interior, Sofia, Bulgaria.
Hidradenitis suppurativa (HS) is a chronic inflammatory disease that is frequently associated with syndromes, such as those within the PAPA spectrum. Syndromic HS presents unique management challenges, as it often shows resistance to conventional therapies. Pyoderma gangrenosum is a rare inflammatory neutrophilic dermatosis that is often seen in association within the spectrum of autoinflammatory diseases.
View Article and Find Full Text PDFJ Dermatol
February 2024
Department of Dermatology and Allergy, University Hospital, LMU, Munich, Germany.
Pyoderma gangrenosum (PG), hidradenitis suppurativa (HS), and the associated autoinflammatory syndromes, including pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome, PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH) syndrome, and pyogenic arthritis, pyoderma gangrenosum, acne, and suppurative hidradenitis (PAPASH) syndrome are dermatological conditions characterized by chronic inflammation and tissue damage. Recent advances in genetic research have identified specific mutations associated with these disorders, shedding light on their underlying pathogenic mechanisms. This review aims to summarize the current knowledge of identified mutations and presumed pathophysiology in PG, HS, and the associated autoinflammatory syndromes.
View Article and Find Full Text PDF