{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T13:31:24Z","timestamp":1787059884501,"version":"build-2736575974"},"reference-count":10,"publisher":"Bioscientifica","issue":"2","license":[{"start":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T00:00:00Z","timestamp":1783036800000},"content-version":"vor","delay-in-days":93,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,4,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>Neurofibromatosis type 1 is an autosomal dominant disease characterized by cutaneous, bone, and neurocognitive manifestations and an increased risk of neoplasms \u2013 more frequently cutaneous neurofibromas and optic gliomas and more rarely pheochromocytomas\/paragangliomas, solitary parathyroid adenomas with primary hyperparathyroidism, and breast carcinomas. We present a case of a 48-year-old woman with an unexpected presentation of Takotsubo syndrome that culminated in a synchronous diagnosis of pheochromocytoma, primary hyperparathyroidism, and invasive breast carcinoma (pN2(R0)N1) in the context of previously unknown neurofibromatosis type 1. The patient underwent simultaneous right adrenalectomy and lower parathyroidectomy nearly one month after left lumpectomy with axillary ganglion dissection. No complications were reported after adequate alpha- and beta-adrenergic blockade before or during both surgical interventions. Furthermore, after definitive treatment of catecholamine hypersecretion, postoperative chemoradiotherapy was required. Our case highlights the importance of differential diagnosis with multiple endocrine neoplasia type 2 and the relevance of multidisciplinary teams in the management of complications associated with neurofibromatosis type 1, namely those related to neoplasms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                  <\/jats:sec>","DOI":"10.1530\/edm-25-0109","type":"journal-article","created":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T17:11:02Z","timestamp":1777482662000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["Pheochromocytoma and primary hyperparathyroidism: a very rare association in a neurofibromatosis type 1 patient unmasked by Takotsubo syndrome"],"prefix":"10.1530","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-2867-6159","authenticated-orcid":true,"given":"Nuno","family":"Faria","sequence":"first","affiliation":[{"name":"Endocrinology Department, Hospital de Braga, Braga, Portugal 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentim","family":"Lopes","sequence":"additional","affiliation":[{"name":"Endocrinology Department, Hospital de Braga, Braga, Portugal 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara","family":"Pereira","sequence":"additional","affiliation":[{"name":"Cardiology Department, Hospital Senhora da Oliveira, Guimar\u00e3es, Portugal 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Azevedo","sequence":"additional","affiliation":[{"name":"Cardiology Department, Hospital Senhora da Oliveira, Guimar\u00e3es, Portugal 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ant\u00f3nio","family":"Louren\u00e7o","sequence":"additional","affiliation":[{"name":"Cardiology Department, Hospital Senhora da Oliveira, Guimar\u00e3es, Portugal 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana De Sousa","family":"Lages","sequence":"additional","affiliation":[{"name":"Endocrinology Department, Hospital de Braga, Braga, Portugal 1"},{"name":"Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal 3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catarina Martins","family":"Machado","sequence":"additional","affiliation":[{"name":"Endocrinology Department, Hospital de Braga, Braga, Portugal 1"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","published-online":{"date-parts":[[2026,4,29]]},"reference":[{"key":"2026081809184555700_bib1","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/nrc3911","article-title":"A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour supressor","volume":"15","author":"Ratner","year":"2015","journal-title":"Nat Rev Cancer"},{"key":"2026081809184555700_bib2","first-page":"799","volume-title":"Handbook of Clinical Neurology","author":"Cimino","year":"2018","edition":"3th edn"},{"key":"2026081809184555700_bib3","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1111\/cen.13163","article-title":"Pheocromocytoma and paraganglioma in patients with neurofibromatosis type 1","volume":"86","author":"Gruber","year":"2017","journal-title":"Clin Endocrinol"},{"key":"2026081809184555700_bib4","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1007\/s12020-019-02035-3","article-title":"Pheochromocytoma and paraganglioma-triggered takotsubo syndrome","volume":"65","author":"Hassan","year":"2019","journal-title":"Endocrine"},{"key":"2026081809184555700_bib5","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.repc.2018.07.010","article-title":"Short- and medium-term prognosis of takotsubo syndrome in a Portuguese population","volume":"38","author":"Bento","year":"2019","journal-title":"Rev Port Cardiol"},{"key":"2026081809184555700_bib6","first-page":"531","article-title":"Increased risk of breast cancer in neurofibromatosis type 1: current insights","volume":"9","author":"Howell","year":"2017","journal-title":"Breast Cancer"},{"key":"2026081809184555700_bib7","doi-asserted-by":"crossref","first-page":"349","DOI":"10.4103\/2230-8210.109670","article-title":"Neurofibromatosis type 1, pheocromocytoma with primary hyperparathyroidism: a rare association","volume":"17","author":"Behera","year":"2013","journal-title":"Indian J Endocrinol Metab"},{"key":"2026081809184555700_bib8","doi-asserted-by":"crossref","first-page":"2032","DOI":"10.1093\/eurheartj\/ehy076","article-title":"International expert consensus document on takotsubo syndrome: clinical characteristics, diagnostic criteria, and pathophysiology","volume":"39","author":"Ghadri","year":"2018","journal-title":"Eur Heart J"},{"key":"2026081809184555700_bib9","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1590\/2359-3997000000092","article-title":"Association between atypical parathyroid adenoma and neurofibromatosis","volume":"59","author":"Favere","year":"2015","journal-title":"Arch Endocrinol Metab"},{"key":"2026081809184555700_bib10","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s13023-020-1310-3","article-title":"Neurofibromatosis type 1: French national guidelines based on an extensive literature review since 1966","volume":"15","author":"Bergqvist","year":"2020","journal-title":"Orphanet J Rare 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