{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T15:58:59Z","timestamp":1773849539505,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,9,14]],"date-time":"2022-09-14T00:00:00Z","timestamp":1663113600000},"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":["Pediatric Dermatology"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a genodermatosis with autosomal dominant inheritance caused by mutations in <jats:italic>FAM111B<\/jats:italic>. We report another case with a new pathogenic variant and analyze all previously published 34 cases with a focus on sequence of clinical presentation and genotype\u2013phenotype correlation. POIKTMP is characterized by marked age\u2010dependent clinical expressivity. <jats:italic>FAM111B<\/jats:italic> encodes a catalytic nuclear protein, expressed in many tissues, which contributes to impaired DNA repair affecting multiple systems. Specific inhibition of catalytic activity might be a future strategy to halt progression of this otherwise untreatable disease. Given the relentless progression of the disease, it would make sense to start such treatment as early as possible. In order to achieve this objective, children with suspected POIKTMP should therefore undergo early imaging of all relevant organ systems.<\/jats:p>","DOI":"10.1111\/pde.15133","type":"journal-article","created":{"date-parts":[[2022,9,14]],"date-time":"2022-09-14T10:56:54Z","timestamp":1663153014000},"page":"182-187","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Hereditary fibrosing poikiloderma (<scp>POIKTMP<\/scp> syndrome) report of a new mutation and review of the literature"],"prefix":"10.1111","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3268-7479","authenticated-orcid":false,"given":"Peter H.","family":"Hoeger","sequence":"first","affiliation":[{"name":"Department of Pediatrics Catholic Children's Hospital Wilhelmstift  Hamburg Germany"},{"name":"Department of Pediatric Dermatology Catholic Children's Hospital Wilhelmstift  Hamburg 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