{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,31]],"date-time":"2025-01-31T14:40:22Z","timestamp":1738334422228,"version":"3.35.0"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T00:00:00Z","timestamp":1696896000000},"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":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Barber\u2013Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We describe a 9\u2010year\u2010old boy with congenital generalized hypertrichosis and multiple rhabdomyomatous mesenchymal hamartomas (RMHs) on his nose and periocular region. Next\u2010generation sequencing, performed in DNA from a blood sample, and RMH tissue, revealed a pathogenic variant in the <jats:italic>TWIST2<\/jats:italic> gene, which was not detected in a salivary sample of the patient, nor in his parents. Therefore, we consider this variant as de novo mosaicism. To our knowledge, this is the first case of multiple RMHs associated with BSS.<\/jats:p>","DOI":"10.1111\/pde.15436","type":"journal-article","created":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T03:23:46Z","timestamp":1696994626000},"page":"307-310","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber\u2013Say syndrome"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0438-1184","authenticated-orcid":false,"given":"Aniza","family":"Giacaman","sequence":"first","affiliation":[{"name":"Dermatology Department Hospital Universitari Son Espases  Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oriol","family":"Corral\u2010Maga\u00f1a","sequence":"additional","affiliation":[{"name":"Dermatology Department Hospital Universitari Son Espases  Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Saus Sarrias","sequence":"additional","affiliation":[{"name":"Anatomical Pathology Department Hospital Universitari Son Espases  Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillermo","family":"Gonz\u00e1lez\u2010L\u00f3pez","sequence":"additional","affiliation":[{"name":"Anatomical Pathology Department Hospital Universitari Son Espases  Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00edctor Jos\u00e9","family":"Asensio Landa","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics and Clinical Genetics Unit Hospital Universitari Son Espases  Spain"},{"name":"Institut d'Investigaci\u00f3 Sanit\u00e1ria de les Illes Balears (IdISBa)  Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Mart\u00edn\u2010Santiago","sequence":"additional","affiliation":[{"name":"Dermatology Department Hospital Universitari Son Espases  Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,10,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.1014"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37757"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000472408"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/01676830.2021.1930066"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.128"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1986.tb00507.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0560.2002.290407.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2016.03.013"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12731"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12331"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15436","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,31]],"date-time":"2025-01-31T14:22:05Z","timestamp":1738333325000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15436"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,10]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1111\/pde.15436"],"URL":"https:\/\/doi.org\/10.1111\/pde.15436","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2023,10,10]]},"assertion":[{"value":"2023-01-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}