{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:31:47Z","timestamp":1787315507755,"version":"build-2736575974"},"reference-count":13,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T00:00:00Z","timestamp":1677110400000},"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":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Primary erythromelalgia (PEM) is a rare condition characterized by severe burning pain, erythema, and increased temperature in the extremeties. Mutations in the Nav1.7 sodium channel encoded by the\n                    <jats:italic>SCN9A<\/jats:italic>\n                    are responsible for PEM. The pathophysiology of PEM is unclear, but the involvement of neurogenic and vasogenic mechanisms has been suggested. Here we report a case of severe PEM in a 9\u2010year\u2010old child with a novel\n                    <jats:italic>SCN9A<\/jats:italic>\n                    mutation and examine the distribution of nerve fibers and expression of neuropeptides in the affected skin. Gene mutation analysis revealed a novel mutation p.L951I (c.2851C&gt;A) in the heterozygous form of the\n                    <jats:italic>SCN9A<\/jats:italic>\n                    . An immunofluorescence study showed that intraepidermal nerve fibers were decreased in the affected leg, suggesting small fiber neuropathy. There was no increase in the expression of substance P (SP) or calcitonin gene\u2010related peptide (CGRP) in the lesional skin tissue. These findings suggest SP and CGRP do not play a major role in the pathophysiology of primary erythromelalgia.\n                  <\/jats:p>","DOI":"10.1111\/1346-8138.16754","type":"journal-article","created":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T04:06:00Z","timestamp":1677125160000},"page":"938-941","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A severe case of primary erythromelalgia presenting as small fiber neuropathy with a novel\n                    <i>SCN9A<\/i>\n                    mutation"],"prefix":"10.1111","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2357-7550","authenticated-orcid":false,"given":"Daisuke","family":"Watabe","sequence":"first","affiliation":[{"name":"Department of Dermatology Iwate Medical University School of Medicine  Yahaba\u2010cho Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsutoshi","family":"Tominaga","sequence":"additional","affiliation":[{"name":"Juntendo Itch Research Center, Institute for Environment and Gender\u2010Specific Medicine Juntendo University Graduate School of Medicine  Urayasu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumika","family":"Toyama","sequence":"additional","affiliation":[{"name":"Juntendo Itch Research Center, Institute for Environment and Gender\u2010Specific Medicine Juntendo University Graduate School of Medicine  Urayasu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0644-0504","authenticated-orcid":false,"given":"Kenji","family":"Takamori","sequence":"additional","affiliation":[{"name":"Juntendo Itch Research Center, Institute for Environment and Gender\u2010Specific Medicine Juntendo University Graduate School of Medicine  Urayasu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajime","family":"Nakano","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hirosaki University Graduate School of Medicine  Hirosaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroo","family":"Amano","sequence":"additional","affiliation":[{"name":"Department of Dermatology Iwate Medical University School of Medicine  Yahaba\u2010cho Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,2,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0347-1"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1590\/abd1806-4841.20187535"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20511"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.012153"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-020-02419-9"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2006.04.067"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1684\/ejd.2013.2189"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn093"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182904fdd"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.00218.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00281-018-0675-z"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.2340\/0001555577325326"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12990-015-0024-3"}],"container-title":["The 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