Clinical features and pedigree report of a patient with giant neurofibroma

Zhou, Jianda; Chen, Zizi; Li, Wanmeng; Luo, Chengqun; Ying, Chaoqi; Li, Ping; Chen, Jia

doi:10.1007/s12032-011-9882-3

Cited by 2 publications

(2 citation statements)

References 5 publications

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“…Заболевание характеризуется на личием пятен цвета кофе с молоком, подмышечных веснушек, узелков Лиша и множественных кожных нейрофибром. Также нередки случаи малигнизации данных структур с развитием злокачественных форм опухолей из оболочек периферических нервов [3].…”

Section: Introductionunclassified

Surgical treatment of a massive soft tissue neurofibroma in neurofibromatosis type 1

Valiev,

Salkov,

Petrochenko

2024

jour

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Introduction. Neurofibromas developing in neurofibromatosis type 1 rarely grow to a large size. However, in cases of massive lesions, selection of optimal treatment tactics can be complicated. Clinicians usually resort to surgical treatment which currently serves as an effective instrument for improving patients’ quality of life and for achieving good cosmetic results.Aim. To describe a successful experience of surgical treatment in a patient with giant neurofibroma type 1 affecting a massive pool of soft tissues.Clinical case. Patient, 22 years, sought medical help at the N.N. Blokhin National Medical Research Center of Oncology with diagnosis of neurofibromatosis type 1 with massive lesions in the tissues of the lower third of the back, gluteal region, thighs. The disease has existed since birth, family medical history is fraught: father died of malignant manifestation of a neurogenic tumor. The younger sister is also diagnosed with neurofibromatosis affecting the brain and manifesting through cafe au lait spots on the body. Due to massive tumors significantly decreasing the patient’s quality of life, cytoreductive surgical treatment was prescribed aimed at maximally radical resection of all available tumors to alleviate the patient’s condition.Conclusion. The presented clinical case demonstrates successful experience of surgical treatment of a patient with giant neurofibroma affecting a massive pool of soft tissues.

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Section: Introductionunclassified

Surgical treatment of a massive soft tissue neurofibroma in neurofibromatosis type 1

Valiev,

Salkov,

Petrochenko

2024

jour

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“…Neurofibromatosis type 1 (NF1, von Recklinghausen’s disease) is an autosomal-dominant inheritable syndrome attributable to genetic mutations in the coding of neurofibromin [ 1 ]. Although generally benign, the expansile neurofibromas characteristic of NF1 readily displace contiguous organs, resulting in highly visible malformations and other dysfunctions [ 2 ]. Intrapelvic neurofibromas are often diagnosed at an advanced stage and therefore are difficult to surgically extirpate.…”

Section: Introductionmentioning

confidence: 99%

Surgically treated solitary giant gluteal and retroperitoneal neurofibroma: a case report

Shen¹,

Shen²,

Wu³

et al. 2016

World J Surg Onc

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BackgroundGiant neurofibromas in patients with neurofibromatosis type 1 involve multiple regions and are often difficult to surgically extirpate. However, surgical intervention is the most effective means for improving quality of life. The case reported herein is unique in that it involves a giant neurofibroma, involving the patient’s peritoneal and pelvic cavities, retroperitoneal space, and buttock, which was causing compressive displacement of abdominal and pelvic organs. A challenging surgical intervention was required to accomplish near-total resection to relieve organ compression while preserving visceral and genitoanal function.Case presentationThe case reported is of a patient presenting with a solitary giant retroperitoneal neurofibroma that threatened to obliterate both peritoneal and pelvic cavities and protruded conspicuously into the right gluteal region. The enormous dumbbell-shaped mass was surgically removed in three parts. Postoperative pathology studies confirmed a diagnosis of neurofibroma. Follow-up computed tomography images taken three months postoperatively revealed residual tumor in the perianal region. The patient’s quality of life had measurably improved on follow-up at eight months.ConclusionsSurgical intervention in such extraordinary circumstances of a giant neurofibroma causing compressive displacement of critical organs reduces tumor burden, restores appearance and function of patient’s body and internal organs, and improves the patient’s quality of life.

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Clinical features and pedigree report of a patient with giant neurofibroma

Cited by 2 publications

References 5 publications

Surgical treatment of a massive soft tissue neurofibroma in neurofibromatosis type 1

Surgical treatment of a massive soft tissue neurofibroma in neurofibromatosis type 1

Surgically treated solitary giant gluteal and retroperitoneal neurofibroma: a case report

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