{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:07:11Z","timestamp":1792084031495,"version":"4.4.0"},"reference-count":13,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,5,13]],"date-time":"2022-05-13T00:00:00Z","timestamp":1652400000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82103717"],"award-info":[{"award-number":["82103717"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82173396"],"award-info":[{"award-number":["82173396"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Phacomatosis pigmentokeratotica (PPK) is a rare epidermal nevus (EN) syndrome, featured by co\u2010occurrence of speckled lentiginous nevus (SLN) and nevus sebaceous (NS). The underlying mechanism has not been clarified. Pathogenic mutations in <jats:italic>HRAS<\/jats:italic>, <jats:italic>KRAS<\/jats:italic> and <jats:italic>BRAF<\/jats:italic> gene are recently recognized as the genetic cause of PPK. Here we present a case of Chinese PPK with a mosaic mutation in <jats:italic>HRAS<\/jats:italic> gene. Physical examination of the 4\u2010year\u2010old male proband showed NS locating on the scalp, with EN and SLN on trunk and extremities. Except congenital fundus vascular tortuosity, no evidence of extracutaneous abnormalities was found in this case. A rare heterozygous missense c. 181 C&gt;A mosaic mutation in <jats:italic>HRAS<\/jats:italic> was identified in samples from NS, EN and pigmented nevus using next\u2010generation sequencing and Sanger sequencing. Meanwhile, no mutation was found in the non\u2010lesion skin, hair follicle, or blood DNA. Recent breakthrough in clinical manifestation, genetic mutation and prognosis of PPK is also reviewed.<\/jats:p>","DOI":"10.1111\/1346-8138.16434","type":"journal-article","created":{"date-parts":[[2022,5,14]],"date-time":"2022-05-14T05:44:15Z","timestamp":1652507055000},"page":"921-924","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["The first case of Chinese phacomatosis pigmentokeratotica diagnosed by a missense <scp><i>HRAS<\/i><\/scp> mosaicism"],"prefix":"10.1111","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7734-8051","authenticated-orcid":false,"given":"Linting","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Department of Laser and Aesthetic Medicine, Shanghai Ninth People's Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuying","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5613-3924","authenticated-orcid":false,"given":"Ruhong","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Institute of Dermatology Shanghai Jiao Tong University School of Medicine  Shanghai 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