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• W1979754268 abstract "Abstract Background Multiple endocrine neoplasia type 1 (MEN1) is a genetic disease that predisposes to endocrine tumour development. Some cutaneous lesions (angiofibromas, collagenomas, melanosis guttaca, lipomas, melanomas, ‘cafe au lait macules’) have been associated to this syndrome. We compare the prevalence of cutaneous lesion in affected patients with their non‐carrier relatives. Patients and method We studied 9 patients with MEN1 and 20 non‐carrier, first‐degree relatives. Genetic screening was realized in all of them. Patients were examined by dermatologist, and biopsy was performed when necessary. Results Patients with MEN1 presented hyperparathyroidism (100%), neuroendocrine tumours of pancreas (66%) and pituitary adenomas (44%); their relatives were free of endocrine features of MEN1. The studied cutaneous lesions were more prevalent in affected patients than in non‐carriers (55.5% vs. 25%; P = 0.029). Odds ratio of developing cutaneous lesions in MEN1 patients was 6.6 (95% confidence interval, 1.09–40.43). The frequency of angiofibromas was lower (22.2%) than the reported in other studies (43–88%), and we did not find any collagenoma. Conclusions MEN1 is associated to some cutaneous lesions and could be useful for detecting MEN1 carriers in an affected family. Cutaneous lesions should be assessed in MEN1 patients." @default.
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• W1979754268 date "2008-05-06" @default.
• W1979754268 modified "2023-10-17" @default.
• W1979754268 title "Cutaneous lesions associated to multiple endocrine neoplasia syndrome type 1" @default.
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• W1979754268 doi "https://doi.org/10.1111/j.1468-3083.2008.02578.x" @default.
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