PSTPIP1‐associated myeloid‐related proteinemia inflammatory (PAMI) syndrome: A case report and review of the literature
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...
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| Veröffentlicht in: | Pediatric dermatology 2024-11, Vol.41 (6), p.1179-1182 |
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| container_title | Pediatric dermatology |
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| creator | Tran, Megan M. Sprau, Pallavi Basu Moyer, Amanda R. Rieger, Kerri E. Lewis, Matthew A. Hsu, Joyce J. Siegel, Dawn H. |
| description | 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. Recognition of the distinctive skin findings seen in PAMI syndrome can help distinguish it from other inflammatory disorders, enabling expedited diagnosis and treatment. |
| doi_str_mv | 10.1111/pde.15669 |
| format | Article |
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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. Recognition of the distinctive skin findings seen in PAMI syndrome can help distinguish it from other inflammatory disorders, enabling expedited diagnosis and treatment.</description><identifier>ISSN: 0736-8046</identifier><identifier>ISSN: 1525-1470</identifier><identifier>EISSN: 1525-1470</identifier><identifier>DOI: 10.1111/pde.15669</identifier><identifier>PMID: 38967953</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Acne ; Acne Vulgaris ; Adaptor Proteins, Signal Transducing - genetics ; Adolescent ; autoinflammatory ; cutaneous manifestations ; Cytoskeletal Proteins - genetics ; Dermatitis ; Female ; Humans ; hypercalprotectinemia ; hyperzincemia ; Immunoglobulin A ; inflammatory condition ; Inflammatory diseases ; Literature reviews ; Nephropathy ; neutropenia ; PAMI syndrome ; Pediatrics ; PSTPIP1‐associated myeloid‐related proteinemia inflammatory ; pyoderma gangrenosum ; skin manifestations ; Syndrome</subject><ispartof>Pediatric dermatology, 2024-11, Vol.41 (6), p.1179-1182</ispartof><rights>2024 Wiley Periodicals LLC.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c2439-4d9210da4a4e16a93e9e2a8071a010c143b71deda4c2fd06eb28ff4ef14934fb3</cites><orcidid>0000-0001-6546-2693 ; 0000-0002-2862-0805 ; 0000-0002-4436-2471</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%2Fpde.15669$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fpde.15669$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,782,786,1419,27931,27932,45581,45582</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38967953$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tran, Megan M.</creatorcontrib><creatorcontrib>Sprau, Pallavi Basu</creatorcontrib><creatorcontrib>Moyer, Amanda R.</creatorcontrib><creatorcontrib>Rieger, Kerri E.</creatorcontrib><creatorcontrib>Lewis, Matthew A.</creatorcontrib><creatorcontrib>Hsu, Joyce J.</creatorcontrib><creatorcontrib>Siegel, Dawn H.</creatorcontrib><title>PSTPIP1‐associated myeloid‐related proteinemia inflammatory (PAMI) syndrome: A case report and review of the literature</title><title>Pediatric dermatology</title><addtitle>Pediatr Dermatol</addtitle><description>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. Recognition of the distinctive skin findings seen in PAMI syndrome can help distinguish it from other inflammatory disorders, enabling expedited diagnosis and treatment.</description><subject>Acne</subject><subject>Acne Vulgaris</subject><subject>Adaptor Proteins, Signal Transducing - genetics</subject><subject>Adolescent</subject><subject>autoinflammatory</subject><subject>cutaneous manifestations</subject><subject>Cytoskeletal Proteins - genetics</subject><subject>Dermatitis</subject><subject>Female</subject><subject>Humans</subject><subject>hypercalprotectinemia</subject><subject>hyperzincemia</subject><subject>Immunoglobulin A</subject><subject>inflammatory condition</subject><subject>Inflammatory diseases</subject><subject>Literature reviews</subject><subject>Nephropathy</subject><subject>neutropenia</subject><subject>PAMI syndrome</subject><subject>Pediatrics</subject><subject>PSTPIP1‐associated myeloid‐related proteinemia inflammatory</subject><subject>pyoderma gangrenosum</subject><subject>skin manifestations</subject><subject>Syndrome</subject><issn>0736-8046</issn><issn>1525-1470</issn><issn>1525-1470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10cFqFTEUBuAgir1WF76ABNy0i2lPJpnMxN2l1nqhxQHrOuROTjBlZnJNZiyDGx_BZ_RJGnurC6HZJBw-fnL4CXnN4ITlc7qzeMIqKdUTsmJVWRVM1PCUrKDmsmhAyAPyIqUbAGikZM_JAW-UrFXFV-RH-_m63bTs989fJqXQeTOhpcOCffA2DyP295NdDBP6EQdvqB9db4bBTCEu9KhdX22OaVpGG8OA7-iadiYhjbgLcaJmtPn53eMtDY5OX5H2fsJopjniS_LMmT7hq4f7kHz5cH599rG4_HSxOVtfFl0puCqEVSUDa4QRyKRRHBWWpoGaGWDQMcG3NbOYQVc6CxK3ZeOcQMeE4sJt-SE52ufmJb7NmCY9-NRh35sRw5w0h1oCU1BDpm__ozdhjmP-neaMQ1WJsmZZHe9VF0NKEZ3eRT-YuGgG-k8jOjei7xvJ9s1D4rwd0P6TfyvI4HQPbn2Py-NJun1_vo-8A_Aulzg</recordid><startdate>202411</startdate><enddate>202411</enddate><creator>Tran, Megan M.</creator><creator>Sprau, Pallavi Basu</creator><creator>Moyer, Amanda R.</creator><creator>Rieger, Kerri E.</creator><creator>Lewis, Matthew A.</creator><creator>Hsu, Joyce J.</creator><creator>Siegel, Dawn H.</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>NAPCQ</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-6546-2693</orcidid><orcidid>https://orcid.org/0000-0002-2862-0805</orcidid><orcidid>https://orcid.org/0000-0002-4436-2471</orcidid></search><sort><creationdate>202411</creationdate><title>PSTPIP1‐associated myeloid‐related proteinemia inflammatory (PAMI) syndrome: A case report and review of the literature</title><author>Tran, Megan M. ; Sprau, Pallavi Basu ; Moyer, Amanda R. ; Rieger, Kerri E. ; Lewis, Matthew A. ; Hsu, Joyce J. ; Siegel, Dawn H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2439-4d9210da4a4e16a93e9e2a8071a010c143b71deda4c2fd06eb28ff4ef14934fb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Acne</topic><topic>Acne Vulgaris</topic><topic>Adaptor Proteins, Signal Transducing - genetics</topic><topic>Adolescent</topic><topic>autoinflammatory</topic><topic>cutaneous manifestations</topic><topic>Cytoskeletal Proteins - genetics</topic><topic>Dermatitis</topic><topic>Female</topic><topic>Humans</topic><topic>hypercalprotectinemia</topic><topic>hyperzincemia</topic><topic>Immunoglobulin A</topic><topic>inflammatory condition</topic><topic>Inflammatory diseases</topic><topic>Literature reviews</topic><topic>Nephropathy</topic><topic>neutropenia</topic><topic>PAMI syndrome</topic><topic>Pediatrics</topic><topic>PSTPIP1‐associated myeloid‐related proteinemia inflammatory</topic><topic>pyoderma gangrenosum</topic><topic>skin manifestations</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tran, Megan M.</creatorcontrib><creatorcontrib>Sprau, Pallavi Basu</creatorcontrib><creatorcontrib>Moyer, Amanda R.</creatorcontrib><creatorcontrib>Rieger, Kerri E.</creatorcontrib><creatorcontrib>Lewis, Matthew A.</creatorcontrib><creatorcontrib>Hsu, Joyce J.</creatorcontrib><creatorcontrib>Siegel, Dawn H.</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>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tran, Megan M.</au><au>Sprau, Pallavi Basu</au><au>Moyer, Amanda R.</au><au>Rieger, Kerri E.</au><au>Lewis, Matthew A.</au><au>Hsu, Joyce J.</au><au>Siegel, Dawn H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>PSTPIP1‐associated myeloid‐related proteinemia inflammatory (PAMI) syndrome: A case report and review of the literature</atitle><jtitle>Pediatric dermatology</jtitle><addtitle>Pediatr Dermatol</addtitle><date>2024-11</date><risdate>2024</risdate><volume>41</volume><issue>6</issue><spage>1179</spage><epage>1182</epage><pages>1179-1182</pages><issn>0736-8046</issn><issn>1525-1470</issn><eissn>1525-1470</eissn><abstract>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. Recognition of the distinctive skin findings seen in PAMI syndrome can help distinguish it from other inflammatory disorders, enabling expedited diagnosis and treatment.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>38967953</pmid><doi>10.1111/pde.15669</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0001-6546-2693</orcidid><orcidid>https://orcid.org/0000-0002-2862-0805</orcidid><orcidid>https://orcid.org/0000-0002-4436-2471</orcidid></addata></record> |
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| subjects | Acne Acne Vulgaris Adaptor Proteins, Signal Transducing - genetics Adolescent autoinflammatory cutaneous manifestations Cytoskeletal Proteins - genetics Dermatitis Female Humans hypercalprotectinemia hyperzincemia Immunoglobulin A inflammatory condition Inflammatory diseases Literature reviews Nephropathy neutropenia PAMI syndrome Pediatrics PSTPIP1‐associated myeloid‐related proteinemia inflammatory pyoderma gangrenosum skin manifestations Syndrome |
| title | PSTPIP1‐associated myeloid‐related proteinemia inflammatory (PAMI) syndrome: A case report and review of the literature |
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