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乳腺神经纤维瘤:一例报告。

Breast neurofibroma: A case report.

作者信息

Watik F, Harrad M, Sami Z, Mahdaoui Sakher, Boufettal Houssine, Samouh Naima

机构信息

Gynecology Department, Univesity Hospital Ibn Rochd, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, Morocco.

Gynecology Department, Univesity Hospital Ibn Rochd, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, Morocco.

出版信息

Int J Surg Case Rep. 2022 Sep;98:107533. doi: 10.1016/j.ijscr.2022.107533. Epub 2022 Aug 27.

Abstract

INTRODUCTION

Neurofibromatosis type 1 or Von Recklinghausen disease is a rare autosomal dominant hereditary disease with total penetrance. It is characterized by an extreme clinical variability that is also found within the same family.

PRESENTATION OF CASE

We report a case of neurofibroma exceptional by its location in the breast in a 40-year-old woman with Von Recklinghausen disease, discovered by a breast nodule on self-examination. A biopsy-exeresis had concluded on the anatomopathological examination to the diagnosis of neurofibroma.

DISCUSSION

Breast involvement in neurofibromatosis is extremely rare and possible. Rapid and adequate management of patients with Von Recklinghausen disease is essential in order to make the diagnosis early and to institute appropriate treatment as soon as possible, given the risk of possible malignant transformation.

CONCLUSION

Diagnosis is essentially based on anatomopathological study. This confirms the diagnosis and rules out possible associated malignancy.

摘要

引言

1型神经纤维瘤病或冯·雷克林豪森病是一种罕见的常染色体显性遗传病,具有完全外显率。其特点是临床变异性极大,在同一家族中也有体现。

病例介绍

我们报告一例40岁患有冯·雷克林豪森病的女性,其乳腺神经纤维瘤位置特殊,通过自我检查发现乳腺结节。活检切除术后,经解剖病理学检查确诊为神经纤维瘤。

讨论

神经纤维瘤病累及乳腺极为罕见但有可能发生。鉴于存在恶性转化风险,对冯·雷克林豪森病患者进行快速且恰当的管理对于早期诊断和尽早开展适当治疗至关重要。

结论

诊断主要基于解剖病理学研究。这可确诊并排除可能伴发的恶性肿瘤。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/739c/9482922/555efda39471/gr1.jpg

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