Pyrin‐associated autoinflammation with neutrophilic dermatosis: A case report
Pyrin‐associated autoinflammation with neutrophilic dermatosis (PAAND) is a rare, monogenic, autoinflammatory disorder caused by mutations in exon 2 of the MEFV gene. Characterized by neutrophilic dermatosis, recurrent fever, and arthralgia, this syndrome presents a diagnostic challenge due to its l...
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| Veröffentlicht in: | Journal of dermatology 2024-12, Vol.51 (12), p.1702-1706 |
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| creator | Bueno‐Molina, Rocío C. Hernández‐Rodríguez, Juan‐Carlos Zulueta‐Dorado, Teresa Pereyra‐Rodriguez, Jose‐Juan |
| description | Pyrin‐associated autoinflammation with neutrophilic dermatosis (PAAND) is a rare, monogenic, autoinflammatory disorder caused by mutations in exon 2 of the MEFV gene. Characterized by neutrophilic dermatosis, recurrent fever, and arthralgia, this syndrome presents a diagnostic challenge due to its low prevalence and varied clinical manifestations. Here, we present the case of a 49‐year‐old Spanish male with severe hidradenitis suppurativa and pyoderma gangrenosum with a heterozygous variant (p.E244K) in the MEFV gene, consistent with PAAND syndrome. This variant has only been documented in one other case with notable similarities. Both patients share Spanish ancestry and present a severe form of hidradenitis suppurativa. Treatment of the disorder presents challenges due to its variable response to standard therapies. Anti‐interleukin‐1 agents, such as anakinra or anti‐tumor necrosis factor (TNF)‐α are the therapeutic approaches supported by the most substantial evidence. Our findings highlight the importance of genetic evaluation of MEFV mutations in individuals with neutrophilic dermatosis and systemic symptoms. |
| doi_str_mv | 10.1111/1346-8138.17390 |
| format | Article |
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Characterized by neutrophilic dermatosis, recurrent fever, and arthralgia, this syndrome presents a diagnostic challenge due to its low prevalence and varied clinical manifestations. Here, we present the case of a 49‐year‐old Spanish male with severe hidradenitis suppurativa and pyoderma gangrenosum with a heterozygous variant (p.E244K) in the MEFV gene, consistent with PAAND syndrome. This variant has only been documented in one other case with notable similarities. Both patients share Spanish ancestry and present a severe form of hidradenitis suppurativa. Treatment of the disorder presents challenges due to its variable response to standard therapies. Anti‐interleukin‐1 agents, such as anakinra or anti‐tumor necrosis factor (TNF)‐α are the therapeutic approaches supported by the most substantial evidence. Our findings highlight the importance of genetic evaluation of MEFV mutations in individuals with neutrophilic dermatosis and systemic symptoms.</description><identifier>ISSN: 0385-2407</identifier><identifier>ISSN: 1346-8138</identifier><identifier>EISSN: 1346-8138</identifier><identifier>DOI: 10.1111/1346-8138.17390</identifier><identifier>PMID: 39072843</identifier><language>eng</language><publisher>England: Wiley Subscription Services, Inc</publisher><subject>anakinra ; Arthralgia ; autoinflammatory disease ; genetic ; Hereditary Autoinflammatory Diseases - diagnosis ; Hereditary Autoinflammatory Diseases - drug therapy ; Hereditary Autoinflammatory Diseases - genetics ; Hereditary Autoinflammatory Diseases - immunology ; Hidradenitis Suppurativa - diagnosis ; Hidradenitis Suppurativa - drug therapy ; Hidradenitis Suppurativa - genetics ; Hidradenitis Suppurativa - immunology ; Hidradenitis Suppurativa - pathology ; Humans ; infliximab ; Interleukin 1 receptor antagonist ; Interleukin 1 Receptor Antagonist Protein - therapeutic use ; Leukocytes (neutrophilic) ; Male ; Middle Aged ; Mutation ; Neutrophils - immunology ; Neutrophils - pathology ; Pyoderma ; Pyoderma gangrenosum ; Pyoderma Gangrenosum - diagnosis ; Pyoderma Gangrenosum - drug therapy ; Pyoderma Gangrenosum - genetics ; Pyoderma Gangrenosum - pathology ; Pyrin - genetics ; Pyrin protein ; Skin - pathology ; Skin diseases ; Sweet Syndrome - diagnosis ; Sweet Syndrome - drug therapy ; Sweet Syndrome - genetics ; Sweet Syndrome - immunology ; Sweet Syndrome - pathology ; Tumor necrosis factor-TNF</subject><ispartof>Journal of dermatology, 2024-12, Vol.51 (12), p.1702-1706</ispartof><rights>2024 Japanese Dermatological Association.</rights><rights>Copyright © 2024 Japanese Dermatological Association</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c2550-e5cb4a02aab0aec523bc070432aedadcf3a26c457a9248daabc5e9827950a9cd3</cites><orcidid>0000-0001-6843-5877 ; 0000-0003-2525-4069 ; 0009-0004-0601-0995</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2F1346-8138.17390$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2F1346-8138.17390$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,781,785,1418,27929,27930,45579,45580</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39072843$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bueno‐Molina, Rocío C.</creatorcontrib><creatorcontrib>Hernández‐Rodríguez, Juan‐Carlos</creatorcontrib><creatorcontrib>Zulueta‐Dorado, Teresa</creatorcontrib><creatorcontrib>Pereyra‐Rodriguez, Jose‐Juan</creatorcontrib><title>Pyrin‐associated autoinflammation with neutrophilic dermatosis: A case report</title><title>Journal of dermatology</title><addtitle>J Dermatol</addtitle><description>Pyrin‐associated autoinflammation with neutrophilic dermatosis (PAAND) is a rare, monogenic, autoinflammatory disorder caused by mutations in exon 2 of the MEFV gene. Characterized by neutrophilic dermatosis, recurrent fever, and arthralgia, this syndrome presents a diagnostic challenge due to its low prevalence and varied clinical manifestations. Here, we present the case of a 49‐year‐old Spanish male with severe hidradenitis suppurativa and pyoderma gangrenosum with a heterozygous variant (p.E244K) in the MEFV gene, consistent with PAAND syndrome. This variant has only been documented in one other case with notable similarities. Both patients share Spanish ancestry and present a severe form of hidradenitis suppurativa. Treatment of the disorder presents challenges due to its variable response to standard therapies. Anti‐interleukin‐1 agents, such as anakinra or anti‐tumor necrosis factor (TNF)‐α are the therapeutic approaches supported by the most substantial evidence. Our findings highlight the importance of genetic evaluation of MEFV mutations in individuals with neutrophilic dermatosis and systemic symptoms.</description><subject>anakinra</subject><subject>Arthralgia</subject><subject>autoinflammatory disease</subject><subject>genetic</subject><subject>Hereditary Autoinflammatory Diseases - diagnosis</subject><subject>Hereditary Autoinflammatory Diseases - drug therapy</subject><subject>Hereditary Autoinflammatory Diseases - genetics</subject><subject>Hereditary Autoinflammatory Diseases - immunology</subject><subject>Hidradenitis Suppurativa - diagnosis</subject><subject>Hidradenitis Suppurativa - drug therapy</subject><subject>Hidradenitis Suppurativa - genetics</subject><subject>Hidradenitis Suppurativa - immunology</subject><subject>Hidradenitis Suppurativa - pathology</subject><subject>Humans</subject><subject>infliximab</subject><subject>Interleukin 1 receptor antagonist</subject><subject>Interleukin 1 Receptor Antagonist Protein - therapeutic use</subject><subject>Leukocytes (neutrophilic)</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Neutrophils - immunology</subject><subject>Neutrophils - pathology</subject><subject>Pyoderma</subject><subject>Pyoderma gangrenosum</subject><subject>Pyoderma Gangrenosum - diagnosis</subject><subject>Pyoderma Gangrenosum - drug therapy</subject><subject>Pyoderma Gangrenosum - genetics</subject><subject>Pyoderma Gangrenosum - pathology</subject><subject>Pyrin - genetics</subject><subject>Pyrin protein</subject><subject>Skin - pathology</subject><subject>Skin diseases</subject><subject>Sweet Syndrome - diagnosis</subject><subject>Sweet Syndrome - drug therapy</subject><subject>Sweet Syndrome - genetics</subject><subject>Sweet Syndrome - immunology</subject><subject>Sweet Syndrome - pathology</subject><subject>Tumor necrosis factor-TNF</subject><issn>0385-2407</issn><issn>1346-8138</issn><issn>1346-8138</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkD1PwzAQhi0EoqUws6FILCxp_dkkbFUpX6pUBpitq-OqrpK42ImqbvwEfiO_BJeUDix4Ocn33Ku7B6FLgvskvAFhfBinhKV9krAMH6Hu4ecYdTFLRUw5TjrozPsVxjQTBJ-iTkATmnLWRbOXrTPV18cneG-VgVrnETS1NdWigLKE2tgq2ph6GVW6qZ1dL01hVJRrF3rWG38bjSIFXkdOr62rz9HJAgqvL_a1h97uJ6_jx3g6e3gaj6axokLgWAs154ApwByDVoKyucIJ5oyCziFXCwZ0qLhIIKM8zQOmhM5SmmQCQ6Zy1kM3be7a2fdG-1qWxitdFFBp23jJcCqGWbiYBvT6D7qyjavCdpIRToYp5okI1KCllLPeO72Qa2dKcFtJsNy5ljuzcmdW_rgOE1f73GZe6vzA_8oNgGiBjSn09r88-Xw3aYO_AeYpikw</recordid><startdate>202412</startdate><enddate>202412</enddate><creator>Bueno‐Molina, Rocío C.</creator><creator>Hernández‐Rodríguez, Juan‐Carlos</creator><creator>Zulueta‐Dorado, Teresa</creator><creator>Pereyra‐Rodriguez, Jose‐Juan</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-6843-5877</orcidid><orcidid>https://orcid.org/0000-0003-2525-4069</orcidid><orcidid>https://orcid.org/0009-0004-0601-0995</orcidid></search><sort><creationdate>202412</creationdate><title>Pyrin‐associated autoinflammation with neutrophilic dermatosis: A case report</title><author>Bueno‐Molina, Rocío C. ; Hernández‐Rodríguez, Juan‐Carlos ; Zulueta‐Dorado, Teresa ; Pereyra‐Rodriguez, Jose‐Juan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2550-e5cb4a02aab0aec523bc070432aedadcf3a26c457a9248daabc5e9827950a9cd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>anakinra</topic><topic>Arthralgia</topic><topic>autoinflammatory disease</topic><topic>genetic</topic><topic>Hereditary Autoinflammatory Diseases - diagnosis</topic><topic>Hereditary Autoinflammatory Diseases - drug therapy</topic><topic>Hereditary Autoinflammatory Diseases - genetics</topic><topic>Hereditary Autoinflammatory Diseases - immunology</topic><topic>Hidradenitis Suppurativa - diagnosis</topic><topic>Hidradenitis Suppurativa - drug therapy</topic><topic>Hidradenitis Suppurativa - genetics</topic><topic>Hidradenitis Suppurativa - immunology</topic><topic>Hidradenitis Suppurativa - pathology</topic><topic>Humans</topic><topic>infliximab</topic><topic>Interleukin 1 receptor antagonist</topic><topic>Interleukin 1 Receptor Antagonist Protein - therapeutic use</topic><topic>Leukocytes (neutrophilic)</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Neutrophils - immunology</topic><topic>Neutrophils - pathology</topic><topic>Pyoderma</topic><topic>Pyoderma gangrenosum</topic><topic>Pyoderma Gangrenosum - diagnosis</topic><topic>Pyoderma Gangrenosum - drug therapy</topic><topic>Pyoderma Gangrenosum - genetics</topic><topic>Pyoderma Gangrenosum - pathology</topic><topic>Pyrin - genetics</topic><topic>Pyrin protein</topic><topic>Skin - pathology</topic><topic>Skin diseases</topic><topic>Sweet Syndrome - diagnosis</topic><topic>Sweet Syndrome - drug therapy</topic><topic>Sweet Syndrome - genetics</topic><topic>Sweet Syndrome - immunology</topic><topic>Sweet Syndrome - pathology</topic><topic>Tumor necrosis factor-TNF</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bueno‐Molina, Rocío C.</creatorcontrib><creatorcontrib>Hernández‐Rodríguez, Juan‐Carlos</creatorcontrib><creatorcontrib>Zulueta‐Dorado, Teresa</creatorcontrib><creatorcontrib>Pereyra‐Rodriguez, Jose‐Juan</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bueno‐Molina, Rocío C.</au><au>Hernández‐Rodríguez, Juan‐Carlos</au><au>Zulueta‐Dorado, Teresa</au><au>Pereyra‐Rodriguez, Jose‐Juan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Pyrin‐associated autoinflammation with neutrophilic dermatosis: A case report</atitle><jtitle>Journal of dermatology</jtitle><addtitle>J Dermatol</addtitle><date>2024-12</date><risdate>2024</risdate><volume>51</volume><issue>12</issue><spage>1702</spage><epage>1706</epage><pages>1702-1706</pages><issn>0385-2407</issn><issn>1346-8138</issn><eissn>1346-8138</eissn><abstract>Pyrin‐associated autoinflammation with neutrophilic dermatosis (PAAND) is a rare, monogenic, autoinflammatory disorder caused by mutations in exon 2 of the MEFV gene. Characterized by neutrophilic dermatosis, recurrent fever, and arthralgia, this syndrome presents a diagnostic challenge due to its low prevalence and varied clinical manifestations. Here, we present the case of a 49‐year‐old Spanish male with severe hidradenitis suppurativa and pyoderma gangrenosum with a heterozygous variant (p.E244K) in the MEFV gene, consistent with PAAND syndrome. This variant has only been documented in one other case with notable similarities. Both patients share Spanish ancestry and present a severe form of hidradenitis suppurativa. Treatment of the disorder presents challenges due to its variable response to standard therapies. Anti‐interleukin‐1 agents, such as anakinra or anti‐tumor necrosis factor (TNF)‐α are the therapeutic approaches supported by the most substantial evidence. Our findings highlight the importance of genetic evaluation of MEFV mutations in individuals with neutrophilic dermatosis and systemic symptoms.</abstract><cop>England</cop><pub>Wiley Subscription Services, Inc</pub><pmid>39072843</pmid><doi>10.1111/1346-8138.17390</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0001-6843-5877</orcidid><orcidid>https://orcid.org/0000-0003-2525-4069</orcidid><orcidid>https://orcid.org/0009-0004-0601-0995</orcidid></addata></record> |
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| subjects | anakinra Arthralgia autoinflammatory disease genetic Hereditary Autoinflammatory Diseases - diagnosis Hereditary Autoinflammatory Diseases - drug therapy Hereditary Autoinflammatory Diseases - genetics Hereditary Autoinflammatory Diseases - immunology Hidradenitis Suppurativa - diagnosis Hidradenitis Suppurativa - drug therapy Hidradenitis Suppurativa - genetics Hidradenitis Suppurativa - immunology Hidradenitis Suppurativa - pathology Humans infliximab Interleukin 1 receptor antagonist Interleukin 1 Receptor Antagonist Protein - therapeutic use Leukocytes (neutrophilic) Male Middle Aged Mutation Neutrophils - immunology Neutrophils - pathology Pyoderma Pyoderma gangrenosum Pyoderma Gangrenosum - diagnosis Pyoderma Gangrenosum - drug therapy Pyoderma Gangrenosum - genetics Pyoderma Gangrenosum - pathology Pyrin - genetics Pyrin protein Skin - pathology Skin diseases Sweet Syndrome - diagnosis Sweet Syndrome - drug therapy Sweet Syndrome - genetics Sweet Syndrome - immunology Sweet Syndrome - pathology Tumor necrosis factor-TNF |
| title | Pyrin‐associated autoinflammation with neutrophilic dermatosis: A case report |
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