{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:31:33Z","timestamp":1787239893091,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,5,20]],"date-time":"2019-05-20T00:00:00Z","timestamp":1558310400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Severe dermatitis, multiple allergies and metabolic wasting (\n                    <jats:styled-content style=\"fixed-case\">SAM<\/jats:styled-content>\n                    ) syndrome is a recently recognized syndrome caused by mutations in the desmoglein 1 (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">DSG<\/jats:styled-content>\n                      1\n                    <\/jats:italic>\n                    ) and desmoplakin (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content>\n                    <\/jats:italic>\n                    ) genes. Only two cases of\n                    <jats:styled-content style=\"fixed-case\">SAM<\/jats:styled-content>\n                    \u2010\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content>\n                    <\/jats:italic>\n                    have been reported. We report on a 2\u2010year\u2010old girl presenting with pustular lakes within areas of erythema and large accumulations of intraepidermal neutrophils, which initially led to our misdiagnosis of generalized pustular psoriasis. No mutation was found in either the\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>\n                      36\n                      <jats:styled-content style=\"fixed-case\">RN<\/jats:styled-content>\n                    <\/jats:italic>\n                    or\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">CARD<\/jats:styled-content>\n                      14\n                    <\/jats:italic>\n                    genes by Sanger sequencing. The distinctive manifestations of erythroderma with severe itching, hypotrichosis, enamel defects, onychodystrophy, palmoplantar keratoderma and the crucial result of de novo missense mutation in exon 14 of the\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content>\n                    <\/jats:italic>\n                    gene (c.1828T&gt;C, p.S610P) discovered by next\u2010generation sequencing finally confirmed the diagnosis of\n                    <jats:styled-content style=\"fixed-case\">SAM<\/jats:styled-content>\n                    syndrome. The eruptions significantly improved after a 4\u2010week treatment with oral acitretin and topical pimecrolimus. Oral gabapentin was prescribed simultaneously for 4\u00a0months, relieving her skin pruritus and suggesting that early treatment with pimecrolimus, acitretin and gabapentin for\n                    <jats:styled-content style=\"fixed-case\">SAM<\/jats:styled-content>\n                    \u2010\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content>\n                    <\/jats:italic>\n                    syndrome is effective. It may even inhibit multiple allergies induced by skin barrier injury. In this work we also review the clinical features, differential diagnoses and pathological manifestations of\n                    <jats:styled-content style=\"fixed-case\">SAM<\/jats:styled-content>\n                    \u2010\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">DSP<\/jats:styled-content>\n                    <\/jats:italic>\n                    syndrome.\n                  <\/jats:p>","DOI":"10.1111\/1346-8138.14925","type":"journal-article","created":{"date-parts":[[2019,5,20]],"date-time":"2019-05-20T05:32:17Z","timestamp":1558330337000},"page":"622-625","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Severe dermatitis, multiple allergies and metabolic wasting (\n                    <scp>SAM<\/scp>\n                    ) syndrome caused by de novo mutation in the\n                    <i>DSP<\/i>\n                    gene misdiagnosed as generalized pustular psoriasis and treatment of acitretin with gabapentin"],"prefix":"10.1111","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6311-510X","authenticated-orcid":false,"given":"Jianying","family":"Liang","sequence":"first","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunxiao","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1344-9272","authenticated-orcid":false,"given":"Zhen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Ni","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3053-2756","authenticated-orcid":false,"given":"Ming","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5338-6304","authenticated-orcid":false,"given":"Zhirong","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 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