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<article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns:ali="http://www.niso.org/schemas/ali/1.0/" article-type="other" dtd-version="1.2" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">Digital Diagnostics</journal-id><journal-title-group><journal-title xml:lang="en">Digital Diagnostics</journal-title><trans-title-group xml:lang="ru"><trans-title>Digital Diagnostics</trans-title></trans-title-group><trans-title-group xml:lang="zh"><trans-title>Digital Diagnostics</trans-title></trans-title-group></journal-title-group><issn publication-format="print">2712-8490</issn><issn publication-format="electronic">2712-8962</issn><publisher><publisher-name xml:lang="en">Eco-Vector</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">690521</article-id><article-id pub-id-type="doi">10.17816/DD690521</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>Case reports</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>Клинические случаи и серии клинических случаев</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="zh"><subject>临床病例及临床病例的系列</subject></subj-group><subj-group subj-group-type="article-type"><subject></subject></subj-group></article-categories><title-group><article-title xml:lang="en">Beyond Skin Deep: Unraveling Breast Neurofibromatosis - A Captivating Case Report</article-title><trans-title-group xml:lang="ru"><trans-title/></trans-title-group><trans-title-group xml:lang="zh"><trans-title/></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0009-2808-5708</contrib-id><name-alternatives><name xml:lang="en"><surname>Balbino</surname><given-names>Marina</given-names></name><name xml:lang="ru"><surname></surname><given-names></given-names></name><name xml:lang="zh"><surname></surname><given-names></given-names></name></name-alternatives><email>marinabalbino93@gmail.com</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0002-1526-5047</contrib-id><name-alternatives><name xml:lang="en"><surname>Manuela</surname><given-names>Montatore</given-names></name><name xml:lang="ru"><surname></surname><given-names></given-names></name><name xml:lang="zh"><surname></surname><given-names></given-names></name></name-alternatives><email>manuela.montatore@unifg.it</email><xref ref-type="aff" rid="aff2"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0004-4289-3289</contrib-id><name-alternatives><name xml:lang="en"><surname>Federica</surname><given-names>Masino</given-names></name><name xml:lang="ru"><surname></surname><given-names></given-names></name><name xml:lang="zh"><surname></surname><given-names></given-names></name></name-alternatives><email>federicamasino@gmail.com</email><xref ref-type="aff" rid="aff2"/></contrib><contrib contrib-type="author"><name-alternatives><name xml:lang="en"><surname>Carpagnano</surname><given-names>Francesca Anna</given-names></name><name xml:lang="ru"><surname></surname><given-names></given-names></name><name xml:lang="zh"><surname></surname><given-names></given-names></name></name-alternatives><email>c.francesca1991@gmail.com</email><xref ref-type="aff" rid="aff3"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-4325-8330</contrib-id><name-alternatives><name xml:lang="en"><surname>Guglielmi</surname><given-names>Giuseppe</given-names></name><name xml:lang="ru"><surname></surname><given-names></given-names></name><name xml:lang="zh"><surname></surname><given-names></given-names></name></name-alternatives><address><country country="IT">Italy</country></address><bio xml:lang="en"><p>Medical Doctor, Full Professor of Radiology.</p> <p>Department of Clinical and Experimental Medicine.</p></bio><bio xml:lang="ru"><p>Доктор медицины, профессор.</p> <p>Кафедра клинической и экспериментальной медицины.</p> <p> </p></bio><email>giuseppe.guglielmi@unifg.it</email><xref ref-type="aff" rid="aff4"/></contrib></contrib-group><aff-alternatives id="aff1"><aff><institution xml:lang="en">Department of Clinical and Experimental Medicine, Foggia University School of Medicine, Viale&#13;
L. Pinto 1, 71122 Foggia, Italy.</institution></aff><aff><institution xml:lang="ru"></institution></aff><aff><institution xml:lang="zh"></institution></aff></aff-alternatives><aff-alternatives id="aff2"><aff><institution xml:lang="en">Department of Clinical and Experimental Medicine, Foggia University School of Medicine, Viale L. Pinto 1, 71122 Foggia, Italy.</institution></aff><aff><institution xml:lang="ru"></institution></aff><aff><institution xml:lang="zh"></institution></aff></aff-alternatives><aff-alternatives id="aff3"><aff><institution xml:lang="en">Breast Unit, Dimiccoli” Hospital, Viale Ippocrate 15, 70051, Barletta (BT), Italy.</institution></aff><aff><institution xml:lang="ru"></institution></aff><aff><institution xml:lang="zh"></institution></aff></aff-alternatives><aff id="aff4"><institution>University of Foggia</institution></aff><pub-date date-type="preprint" iso-8601-date="2026-04-07" publication-format="electronic"><day>07</day><month>04</month><year>2026</year></pub-date><volume>7</volume><issue>1</issue><issue-title xml:lang="ru"/><history><date date-type="received" iso-8601-date="2025-09-17"><day>17</day><month>09</month><year>2025</year></date><date date-type="accepted" iso-8601-date="2026-01-20"><day>20</day><month>01</month><year>2026</year></date></history><permissions><copyright-statement xml:lang="en">Copyright ©; , Eco-Vector</copyright-statement><copyright-statement xml:lang="ru">Copyright ©; , Эко-вектор</copyright-statement><copyright-statement xml:lang="zh">Copyright ©; , Eco-Vector</copyright-statement><copyright-holder xml:lang="en">Eco-Vector</copyright-holder><copyright-holder xml:lang="ru">Эко-вектор</copyright-holder><copyright-holder xml:lang="zh">Eco-Vector</copyright-holder><ali:free_to_read xmlns:ali="http://www.niso.org/schemas/ali/1.0/"/><license><ali:license_ref xmlns:ali="http://www.niso.org/schemas/ali/1.0/">https://creativecommons.org/licenses/by-nc-nd/4.0</ali:license_ref></license></permissions><self-uri xlink:href="https://jdigitaldiagnostics.com/DD/article/view/690521">https://jdigitaldiagnostics.com/DD/article/view/690521</self-uri><abstract xml:lang="en"><p>Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by the growth of tumors on nerve tissue, known as neurofibromas. Although neurofibromas most commonly affect various parts of the body, their occurrence in the breast is relatively rare. We present a case of a 55yearold female with a known history of NF1 who presented with a palpable mass in her left breast. Imaging studies revealed heterogeneous lesions consistent with neurofibroma. Histopathological examination and surgical excision confirmed the diagnosis. The patient experienced discomfort and aesthetic concerns due to the enlarging mass, prompting surgical intervention. This case highlights the importance of including neurofibromatosis in the differential diagnosis of breast masses in individuals with NF1. Management strategies, including surveillance and surgical excision, are discussed in relation to improving patient outcomes and quality of life.</p></abstract><trans-abstract xml:lang="ru"><p/></trans-abstract><trans-abstract xml:lang="zh"><p/></trans-abstract><kwd-group xml:lang="en"><kwd>Neurofibromatosis type 1</kwd><kwd>Breast neurofibromas</kwd><kwd>Breast tumors</kwd><kwd>Ultrasound imaging</kwd><kwd>Surgical excision.</kwd></kwd-group><funding-group/></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><mixed-citation>⦁	Rotili A, De Maria F, Di Venosa B, Ghioni M, Pizzamiglio M, Cassano E, Moratti M. Solitary breast neurofibroma: imaging aspects. Ecancermedicalscience. 2018;12:800.</mixed-citation></ref><ref id="B2"><label>2.</label><mixed-citation>⦁	Nasri S, Benmoussa Y, Abbou W, Mirali H, Aichouni N, Skiker I. Imaging appearance of isolated diffuse neurofibroma of nipple areolar area: a case report. Pan Afr Med J. 2021;39:178.</mixed-citation></ref><ref id="B3"><label>3.</label><mixed-citation>⦁	Woo SH, Jung HK, Kim W. Bilateral breast cancer in a patient with neurofibromatosis type 1: a case report. J Korean Soc Radiol. 2021;82(2):417-422.</mixed-citation></ref><ref id="B4"><label>4.</label><mixed-citation>⦁	Kouli A, Alayoubi A, Alali M, et al. Breast carcinoma in a patient with neurofibromatosis type 1 and huge plexiform neurofibroma of the contralateral breast: a case report. BMC Womens Health. 2025;25:360.</mixed-citation></ref><ref id="B5"><label>5.</label><mixed-citation>⦁	Plunkett C, Pilkington M. Beliefs, screening attitudes and breast cancer awareness of young women with neurofibromatosis type 1: a reflexive thematic analysis. Health Psychol Behav Med. 2024;12(1):45-58.</mixed-citation></ref><ref id="B6"><label>6.</label><mixed-citation>⦁	Kini U, Walsh MF, Title R. Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review. Hered Cancer Clin Pract. 2019;17:20.</mixed-citation></ref><ref id="B7"><label>7.</label><mixed-citation>⦁	Gokalp G, Hakyemez B, Kizilkaya E, Haholu A. Myxoid neurofibromas of the breast: mammographic, sonographic, and MRI appearances. Br J Radiol. 2007;80:234-237.</mixed-citation></ref><ref id="B8"><label>8.</label><mixed-citation>⦁	Salemis NS, Nakos G, Sambaziotis D, Gourgiotis S. Breast cancer associated with type 1 neurofibromatosis: a case report. Breast Cancer. 2010;17:306-309.</mixed-citation></ref><ref id="B9"><label>9.</label><mixed-citation>⦁	Ahlawat S, Fayad LM, Khan MS, et al. Whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis. Neurology. 2016;87(7 Suppl 1):S31-S39.</mixed-citation></ref><ref id="B10"><label>10.</label><mixed-citation>⦁	Hasson DM, Khera SY, Meade TL, Dupont EL, Greenberg HM, Diaz NM, et al. Challenges in breast conservation therapy in a patient with neurofibromatosis type 1: a case report. Breast J. 2008;14(2):188-192.</mixed-citation></ref><ref id="B11"><label>11.</label><mixed-citation>⦁	Walker L, Thompson D, Easton D, Ponder M, Frayling I, Baralle D. A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer. 2006;95:233-238.</mixed-citation></ref><ref id="B12"><label>12.</label><mixed-citation>⦁	Aidara CM, Diop D, Ndiaye OK, et al. Apport de l’imagerie dans la neurofibromatose de type 1. Feuil Radiol. 2015;55(1):110.</mixed-citation></ref><ref id="B13"><label>13.</label><mixed-citation>⦁	Evans DG, Bowers N, Burkitt-Wright E, et al. Malignant peripheral nerve sheath tumors in neurofibromatosis 1. J Med Genet. 2012;49(4):203-207.</mixed-citation></ref><ref id="B14"><label>14.</label><mixed-citation>⦁	Sharif S, Moran A, Huson SM, et al. Women with neurofibromatosis 1 are at a moderately increased risk of breast cancer and should be considered for early screening. J Med Genet. 2007;44(11):732-736.</mixed-citation></ref><ref id="B15"><label>15.</label><mixed-citation>⦁	Korf BR. Neurofibromatosis. Handb Clin Neurol. 2013;111:333-340.</mixed-citation></ref><ref id="B16"><label>16.</label><mixed-citation>⦁	D'Alessandro P, Viscardi G, Tramontano L, et al. Breast tumors in neurofibromatosis type 1: a review. J Exp Clin Cancer Res. 2021;40:25.</mixed-citation></ref><ref id="B17"><label>17.</label><mixed-citation>⦁	Friedman JM, Birch PH. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am J Med Genet. 1997;70(2):138-143.</mixed-citation></ref></ref-list></back></article>
