{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T06:03:33Z","timestamp":1779689013078,"version":"3.53.1"},"reference-count":35,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Nagashima-type palmoplantar keratoderma (NPPK) is an autosomal recessive disorder caused by biallelic loss-of-function variants in the\n                    <jats:italic>SERPINB7<\/jats:italic>\n                    gene, whereas Hashimoto\u2019s thyroiditis (HT) is a common autoimmune endocrine disease. The co-occurrence of NPPK and HT has not been previously reported. This study aims\u00a0to present this novel association and investigate a potential underlying immunogenetic mechanism. We describe a 10-year-old boy presenting with fever, seizures and a long-standing history of palmoplantar erythema and hyperkeratosis. Diagnostic work-up included neurological evaluation, thyroid function tests, cytokine profiling and whole exome sequencing (WES). Laboratory findings during the acute phase revealed elevated anti-thyroid antibodies (anti-thyroid peroxidase antibodies, anti-thyroglobulin antibodies) and pro-inflammatory cytokines (interleukin [IL]-6, IL-10, interferon-\u03b3). Skin examination confirmed NPPK, and WES identified compound heterozygous pathogenic\n                    <jats:italic>SERPINB7<\/jats:italic>\n                    mutations (c.522dupT; p.V175Cfs*46). The patient was diagnosed with NPPK, HT and Hashimoto\u2019s encephalopathy. Treatment with levothyroxine and levetiracetam led to the resolution of neurological symptoms and normalisation of thyroid function. This first report of coexisting NPPK and HT suggests a potential novel role for\n                    <jats:italic>SERPINB7<\/jats:italic>\n                    in immune dysregulation beyond its known cutaneous functions. The\u00a0findings advocate considering thyroid screening in patients with NPPK and expand the phenotypic spectrum of\n                    <jats:italic>SERPINB7<\/jats:italic>\n                    -related disorders, warranting further research into its extracutaneous immunological\u00a0roles.\n                  <\/jats:p>","DOI":"10.1515\/biol-2025-1299","type":"journal-article","created":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T05:19:10Z","timestamp":1779686350000},"source":"Crossref","is-referenced-by-count":0,"title":["Heterozygous pathogenic variants in\n                    <i>SERPINB7<\/i>\n                    potentially associated with Nagashima-type palmoplantar keratoderma and Hashimoto\u2019s thyroiditis: a case report"],"prefix":"10.1515","volume":"21","author":[{"given":"Hong","family":"Liang","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University) , Haikou , Hainan , 570100 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuwen","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University) , Haikou , Hainan , 570100 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,5,25]]},"reference":[{"key":"2026052505294121389_j_biol-2025-1299_ref_001","doi-asserted-by":"crossref","unstructured":"Kubo, A, Shiohama, A, Sasaki, T, Nakabayashi, K, Kawasaki, H, Atsugi, T, et al.. 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