{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:28:09Z","timestamp":1787498889566,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T00:00:00Z","timestamp":1660608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 AR071491"],"award-info":[{"award-number":["R01 AR071491"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Basaloid follicular hamartomas (BFH) are benign small basaloid skin tumors that can present as solitary or multiple lesions. Congenital BFH lesions arranged in a segmental distribution have been described, suggesting they derive from a somatic post\u2010zygotic mutational event. Previously, BFH were described in Happle\u2010Tinschert syndrome, which results from a post\u2010zygotic\n                    <jats:italic>SMO<\/jats:italic>\n                    variant and is characterized by segmental BFH with variable involvement of the teeth, skeleton, and central nervous system. Here, we describe two patients with isolated segmental BFH and no systemic involvement. Paired whole exome sequencing of BFH and normal tissue revealed a pathogenic\n                    <jats:italic>SMO<\/jats:italic>\n                    c.1234 C&gt;T, p.L412F variant restricted to BFH tissue. We characterized the proliferation index and expression of Hedgehog and Wnt\/beta\u2010catenin pathway related proteins in segmental BFH compared to sporadic basal cell carcinomas (BCCs) and found that segmental BFH had a lower proliferation index. Although segmental BFH expressed a similar level of Gli\u20101 compared to BCCs, levels of LEF\u20101 and SOX\u20109 expression in BFH were weaker for both and patchier for LEF\u20101. Our results show that a somatic\n                    <jats:italic>SMO<\/jats:italic>\n                    activating variant causes segmental BFH. Since these patients are prone to developing BCCs, differences in SOX9, LEF1, and Ki\u201067 expression can help distinguish between these two basaloid lesions.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62951","type":"journal-article","created":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T07:21:11Z","timestamp":1660634471000},"page":"3525-3530","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Segmental basaloid follicular hamartomas derive from a post\u2010zygotic\n                    <scp>SMO<\/scp>\n                    p.\n                    <scp>L412F<\/scp>\n                    pathogenic variant and express hair follicle development\u2010related proteins in a pattern that distinguish them from basal cell carcinomas"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5149-5777","authenticated-orcid":false,"given":"Lihi","family":"Atzmony","sequence":"first","affiliation":[{"name":"Department of Dermatology Yale University School of Medicine  New Haven Connecticut USA"},{"name":"Division of Dermatology, Rabin Medical Center  Petach Tikva Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelson","family":"Ugwu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale University School of Medicine  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lionel G.","family":"Bercovitch","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Warren Alpert Medical School Brown University  Providence Rhode Island USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie","family":"Robinson\u2010Bostom","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Warren Alpert Medical School Brown University  Providence Rhode Island USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine J.","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale University School of Medicine  New Haven Connecticut USA"},{"name":"Department of Pathology Yale University School of Medicine  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peggy","family":"Myung","sequence":"additional","affiliation":[{"name":"Department of Dermatology Yale University School of Medicine  New Haven Connecticut USA"},{"name":"Department of Pathology Yale University School of Medicine  New Haven Connecticut 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