{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:31:15Z","timestamp":1762867875126,"version":"3.40.5"},"reference-count":12,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T00:00:00Z","timestamp":1565136000000},"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","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":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (<jats:styled-content style=\"fixed-case\">POIKTMP<\/jats:styled-content>) is a recently identified autosomal dominant genetic syndrome with mutations in <jats:italic><jats:styled-content style=\"fixed-case\">FAM<\/jats:styled-content>111B<\/jats:italic>. Herein, we report a 14\u2010month\u2010old girl who presented with progressive poikiloderma on the face. Her 24\u2010year\u2010old mother had an identical facial poikiloderma, hyperpigmentation, mottling and Blaschko line hypopigmentation on the trunk and limbs, as well as severe tendon contractures. Next\u2010generation sequencing based on a targeted gene capture panel revealed a missense mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">FAM<\/jats:styled-content>111B<\/jats:italic> gene p.Phe416Ser (c.1247T&gt;C). Her mother had the same mutation as the proband. Moreover, this mutation was absent in the unaffected father and maternal grandparents. Based on the clinical manifestations and genetic analysis, the proband and her mother were diagnosed with <jats:styled-content style=\"fixed-case\">POIKTMP<\/jats:styled-content>. Protein modeling indicated that the mutation p.Phe416Ser dramatically changed the protein structure, especially its structural stability, and affected the protein function. This is the first report of <jats:styled-content style=\"fixed-case\">POIKTMP<\/jats:styled-content> in a Chinese family due to a novel <jats:italic><jats:styled-content style=\"fixed-case\">FAM<\/jats:styled-content>111B<\/jats:italic> mutation. Furthermore, we have reviewed the genotype\u2013phenotype correlation, differential diagnoses and management of <jats:styled-content style=\"fixed-case\">POIKTMP<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/1346-8138.15045","type":"journal-article","created":{"date-parts":[[2019,8,8]],"date-time":"2019-08-08T05:10:08Z","timestamp":1565241008000},"page":"1014-1018","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel <i><scp>FAM<\/scp>111B<\/i> mutation"],"prefix":"10.1111","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1344-9272","authenticated-orcid":false,"given":"Zhen","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuying","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luyao","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huaguo","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Radiology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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 China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,8,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0352-4"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.10.013"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.17996"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0089935"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12918-016-0351-7"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3213"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr009"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3186"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPA.0000000000000529"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14845"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010722)102:1<11::AID-AJMG1413>3.0.CO;2-A"},{"issue":"5","key":"e_1_2_6_13_1","first-page":"e1","article-title":"CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP)","volume":"24","author":"K\u00fcry S","year":"2015","journal-title":"Eur J Hum Genet"}],"container-title":["The Journal of 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