{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:13:08Z","timestamp":1777882388289,"version":"3.51.4"},"reference-count":27,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Therapeutic Advances in Rare Disease"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:p>Pilomatricoma is a rare benign neoplasm originating from hair cortex cells and typically manifests in children as a slow-growing bluish-red, superficial and firm mass. Multiple pilomatricomas can be associated with genetic mutations and syndromic disorders, most commonly with Rubinstein\u2013Taybi syndrome, Gardner syndrome, myotonic dystrophy, Turner syndrome, and Sotos syndrome. Ultrasound examination allows this tumor to be characterized, to assess the involvement of deeper structures and to plan treatment. Pilomatricoma shows some distinctive ultrasonographic features that aid in its diagnosis and it may be seen on ultrasound as an ovoid complex mass. Complications and malignant transformation of pilomatricomas have been described as a possible tumor evolution, and surgical resection is recommended. We present a rare case of a 17-year-old female patient with intellectual disability and microcephaly, and with the evidence of multiple pilomatricomas in the head-neck region on ultrasound examination. The syndromic features of the patient and genetic tests led to a diagnosis of Rubinstein\u2013Taybi syndrome. We also focused on the association between pilomatricomas and genetic mutations in patients with Rubinstein\u2013Taybi syndrome.<\/jats:p>","DOI":"10.1177\/26330040251330316","type":"journal-article","created":{"date-parts":[[2025,4,12]],"date-time":"2025-04-12T17:15:16Z","timestamp":1744478116000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Pilomatricomas in a patient with Rubinstein\u2013Taybi syndrome: diagnostic and therapeutic clues"],"prefix":"10.1177","volume":"6","author":[{"given":"Laura","family":"Battaglia","sequence":"first","affiliation":[{"name":"Department of Medical Surgical Sciences and Advanced Technologies \u2018G.F. Ingrassia\u2019\u2014Radiology I Unit, University Hospital Policlinico \u2018G. Rodolico-San Marco,\u2019 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7529-2680","authenticated-orcid":false,"given":"Corrado","family":"Ini\u2019","sequence":"additional","affiliation":[{"name":"Department of Medical Surgical Sciences and Advanced Technologies \u2018G.F. Ingrassia\u2019\u2014Radiology I Unit, University Hospital Policlinico \u2018G. Rodolico-San Marco,\u2019 Via Santa Sofia 78, Catania 95123, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Lo Bianco","sequence":"additional","affiliation":[{"name":"Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, AOU \u2018Policlinico,\u2019 PO \u2018G. Rodolico,\u2019 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Leonardi","sequence":"additional","affiliation":[{"name":"Postgraduate Training in Pediatrics, University Hospital of Policlinico G. Rodolico, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora","family":"Ini\u2019","sequence":"additional","affiliation":[{"name":"Dipartimento di patologia umana e dell\u2019et\u00e0 evolutiva \u2018G. Barresi\u2019 \u2013 Universit\u00e0 di Messina, Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro Valerio","family":"Foti","sequence":"additional","affiliation":[{"name":"Department of Medical Surgical Sciences and Advanced Technologies \u2018G.F. Ingrassia\u2019\u2014Radiology I Unit, University Hospital Policlinico \u2018G. Rodolico-San Marco,\u2019 Catania, Italy"},{"name":"NANOMED-Research Centre for Nanomedicine and Pharmaceutical Nanotechnology, University of Catania, Catania, Italy"},{"name":"Centro di Ricerca Multidisciplinare \u2018Chirurgia delle Sindromi Malformative Complesse della Transizione e dell\u2019Et\u00e0 Adulta\u2019 (ChiSMaCoTA), Department of Medical Surgical Sciences and Advanced Technologies \u2018G.F. Ingrassia,\u2019 University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Palmucci","sequence":"additional","affiliation":[{"name":"Department of Medical Surgical Sciences and Advanced Technologies \u2018G.F. Ingrassia\u2019\u2014Radiology I Unit, University Hospital Policlinico \u2018G. Rodolico-San Marco,\u2019 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Fichera","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy"},{"name":"Oasi Research Institute-IRCCS, Troina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martino","family":"Ruggieri","sequence":"additional","affiliation":[{"name":"Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, AOU \u2018Policlinico,\u2019 PO \u2018G. Rodolico,\u2019 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Basile","sequence":"additional","affiliation":[{"name":"Department of Medical Surgical Sciences and Advanced Technologies \u2018G.F. Ingrassia\u2019\u2014Radiology I Unit, University Hospital Policlinico \u2018G. Rodolico-San Marco,\u2019 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,4,12]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2021.673861"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1177\/229255030701500311"},{"issue":"4","key":"e_1_3_4_4_2","article-title":"Pilomatrixoma. Review of 205 cases","volume":"16","author":"Guinot-Moya R","year":"2011","unstructured":"Guinot-Moya R, Valmaseda-Castellon E, Berini-Aytes L, et al. Pilomatrixoma. Review of 205 cases. Med Oral Patol Oral Cir Bucal 2011; 16(4): e552\u2013e555.","journal-title":"Med Oral Patol Oral Cir Bucal"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.7181\/acfs.2020.00528"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0000000000001296"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmjebm-2023-112695"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37940"},{"key":"e_1_3_4_9_2","unstructured":"Kniffin CL. Rubinstein-Taybi Syndrome 2; RSTS2 https:\/\/www.omim.org\/entry\/613684 (accessed 25 August 2024)."},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1097\/DAD.0000000000001118"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.23736\/S2784-8671.23.07547-3"},{"key":"e_1_3_4_12_2","volume-title":"Calcifying epithelioma of malherbe","author":"Le C","year":"2024","unstructured":"Le C, Bedocs PM. Calcifying epithelioma of malherbe. 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