{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T05:14:03Z","timestamp":1778649243680,"version":"3.51.4"},"reference-count":12,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:00:00Z","timestamp":1778630400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Rothmund\u2013Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis typically associated with mutations in the\n                      <jats:italic>RECQL4<\/jats:italic>\n                      gene. However, some clinically diagnosed cases lack such variants, indicating genetic heterogeneity.\n                      <jats:italic>ANAPC1<\/jats:italic>\n                      , encoding a subunit of the anaphase-promoting complex (APC\/C), has been implicated in RTS type 1, but its involvement in hair disorders remains unexplored.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report the case of a 29-year-old man who presented with lifelong sparse, fine scalp hair, bilateral malar erythema, soft fingernails, and dental anomalies (malocclusion with multiple caries). Routine laboratory tests were unremarkable except for reduced vitamins B1, B2, B6, and B9 (November 2024). Whole-exome sequencing (approximately 20,000 genes) identified a variant of uncertain significance in\n                      <jats:italic>ANAPC1<\/jats:italic>\n                      (NM_022662.4:c.4907T&amp;gt;C, p.Val1636Ala); no reportable variants were found in ACMG-recommended secondary findings genes. Combination therapy (trazodone 50\u202fmg qn, tanshinone capsules 1\u202fg qid, isotretinoin 20\u202fmg qod, topical halcinonide 10\u202fmL mixed with minoxidil 60\u202fmL 1\u202fmL bid, and multivitamins 2 tablets tid) was initiated in November 2024. After 6\u202fmonths, follow-up trichoscopy (May 2025) showed increased hair density and shaft thickness.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We describe a patient with a Rothmund\u2013Thomson syndrome-like phenotype who carried a heterozygous\n                      <jats:italic>ANAPC1<\/jats:italic>\n                      variant of uncertain significance (VUS) and showed trichoscopic improvement after combination therapy. This singular observation hints at a possible phenotypic expansion associated with\n                      <jats:italic>ANAPC1<\/jats:italic>\n                      but cannot establish a new genotype\u2013phenotype correlation. The clinical improvement underscores that symptomatic management can be beneficial in complex genodermatoses, even in the absence of a definitive molecular diagnosis. The pathogenicity of the\n                      <jats:italic>ANAPC1<\/jats:italic>\n                      VUS remains unconfirmed, necessitating functional validation and segregation studies in future research.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmed.2026.1794483","type":"journal-article","created":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T04:49:38Z","timestamp":1778647778000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: A case of Rothmund\u2013Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement"],"prefix":"10.3389","volume":"13","author":[{"given":"Chuhan","family":"Huang","sequence":"first","affiliation":[{"name":"Beijing University of Chinese Medicine","place":["Beijing, China"]},{"name":"Department of Dermatology, China-Japan Friendship Hospital","place":["Beijing, China"]},{"name":"National Center of Integrated Traditional Chinese and Western Medicine","place":["Beijing, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingwu","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, China-Japan Friendship Hospital","place":["Beijing, China"]},{"name":"National Center of Integrated Traditional Chinese and Western Medicine","place":["Beijing, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dingquan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, China-Japan Friendship Hospital","place":["Beijing, China"]},{"name":"National Center of Integrated Traditional Chinese and Western Medicine","place":["Beijing, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,5,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1016\/j.ajhg.2019.06.011","article-title":"Mutations in ANAPC1, encoding a scaffold subunit of the anaphase-promoting complex, cause Rothmund\u2013Thomson syndrome type 1","volume":"104","author":"Campeau","year":"2019","journal-title":"Am J Hum Genet"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1038\/nrm1471","article-title":"Concise review: mechanisms of quiescent hair follicle stem cell regulation","volume":"5","author":"Cardozo","year":"2004","journal-title":"Nat Rev Mol Cell Biol"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"2323\u20132330","DOI":"10.1002\/stem.2696","article-title":"Hair follicle stem cell SLC3A2 regulates epithelial regenerative properties","volume":"35","author":"Yi","year":"2017","journal-title":"Stem 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Dermatol"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"2573","DOI":"10.2147\/DDDT.S427530","article-title":"Oral isotretinoin and its uses in dermatology: a review","volume":"17","author":"Paichitrojjana","year":"2023","journal-title":"Drug Des Devel Ther"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"2811789","DOI":"10.1155\/2022\/2811789","article-title":"Targeting oxidative stress and endothelial dysfunction using tanshinone IIA for the treatment of tissue inflammation and fibrosis","volume":"2022","author":"Lu","year":"2022","journal-title":"Oxidative Med Cell Longev"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"23","DOI":"10.4103\/ijd.ijd_792_23","article-title":"Psychotropic drugs in dermatology part 1: anti-depressants and mood stabilisers","volume":"70","author":"Kenkare","year":"2025","journal-title":"Indian J Dermatol"}],"container-title":["Frontiers in 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