scholarly journals Management of Neurofibromatosis of the Nipple-Areolar Complex

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Fahad Aljindan ◽  
Lamiaa Aljehani ◽  
Bayan Alsharif ◽  
Hatan Mortada
Keyword(s):  
Nervous System ◽  
Peripheral Nervous System ◽  
Autosomal Dominant ◽  
Case Series ◽  
Surgical Excision ◽  
Neurofibromatosis Type ◽  
Nipple Areolar Complex ◽  
Areolar Complex ◽  
Dominant Disease

Neurofibromatosis type 1 is an autosomal dominant disease having an incidence of 1 in 3000 individuals. It primarily involves the peripheral nervous system and usually presents with many neurofibromas. On rare occasions, NF1 can affect the breast and manifests as nipple-areolar complex extranipple (pseudopolythelia) like neurofibromas which can be disfiguring and sometimes cause pain and therefore need to be addressed surgically. We present a case of a 31-year-old female, who had multiple pedunculated neurofibromas around the nipple on both breasts for 3 years. These lesions were associated with mild pain and were increasing in size. Surgical excision was done while preserving the nipples bilaterally. NF1 primarily involves the peripheral nervous system and usually presents with a large number of neurofibromas. Several case series of patients with NF1 have been reported, but there are only a few published reports on neurofibromas of the nipple-areolar complexes. These lesions can be painful and cause cosmetic deformity. In our case, these lesions were approached by circumferentially excising the redundant nipple-areolar skin containing the neurofibromas, while isolating the nipple on a central ductal and vascular pedicle. In conclusion, the redundant nipple-areolar skin containing the neurofibromas can simply be approached by circumferential excision while preserving the nipple. This technique is simple, easy to perform, while it allows duct preservation and preserves cosmesis.

scholarly journals An Update on Neurofibromatosis Type 1-Associated Gliomas

Cancers ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 114 ◽  
Author(s):  
Lobbous ◽  
Bernstock ◽  
Coffee ◽  
Friedman ◽  
Metrock ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Central Nervous System Neoplasms ◽  
Therapeutic Landscape ◽  
Nervous System Neoplasms ◽  
Collaborative Efforts

Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that affects children and adults. Individuals with NF1 are at high risk for central nervous system neoplasms including gliomas. The purpose of this review is to discuss the spectrum of intracranial gliomas arising in individuals with NF1 with a focus on recent preclinical and clinical data. In this review, possible mechanisms of gliomagenesis are discussed, including the contribution of different signaling pathways and tumor microenvironment. Furthermore, we discuss the recent notable advances in the developing therapeutic landscape for NF1-associated gliomas including clinical trials and collaborative efforts.

Spontaneous Rupture of Multiple Occipital Artery Aneurysms in a Patient With Neurofibromatosis Type 1

2017 ◽  
Vol 52 (1) ◽  
pp. 86-88 ◽  
Author(s):  
Daniele Bissacco ◽  
Maurizio Domanin ◽  
Silvia Romagnoli ◽  
Edoardo Martelli ◽  
Vittorio Civelli ◽  
...  
Keyword(s):  
Nervous System ◽  
Neurofibromatosis Type 1 ◽  
Spontaneous Rupture ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Occipital Artery ◽  
Endovascular Approach ◽  
Spontaneous Hematoma

Neurofibromatosis type 1 (NF-1) is an autosomal dominant genetic disorder, mainly characterized by skin and peripheral nervous system abnormalities. Uncommonly, NF-1 may be associated with peripheral or supra-aortic trunks artery aneurysms. We report a case of symptomatic multiple occipital artery aneurysms detected in a 53-year-old woman affected by sporadic NF-1. An endovascular approach was performed to exclude aneurysms and to stop laterocervical spontaneous hematoma.

scholarly journals Spontaneous hemothorax: A rare lethal pulmonary complication of neurofibromatosis type 1

2021 ◽  
pp. 433-435
Author(s):  
Aditya Nath Shukla ◽  
Ashok Kumar Singh ◽  
Saket Nigam
Keyword(s):  
Hemorrhagic Shock ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Pulmonary Complication ◽  
Neurofibromatosis Type ◽  
Autosomal Dominant Disease ◽  
Spontaneous Hemothorax ◽  
Dominant Disease ◽  
Abnormal Pigmentation

Neurofibromatosis 1 (NF1), also called von Recklinghausen’s disease, is an autosomal dominant disease characterized by multiple non-cancerous tumors of nerves and skin, and areas of abnormal pigmentation. Vasculopathy and spontaneous hemothorax are rare complications, but potentially lethal, which necessitates quick and decisive intervention to save the life of the patient. Here, we present a case of spontaneous massive haemothorax leading to hemorrhagic shock in a 66-year-old woman with neurofibromatosis type-1. She was investigated and managed successfully.

scholarly journals Surgical dilemma of the management of breast cancer in a patient with neurofibromatosis: case report and a review of the literature

2020 ◽  
Vol 2020 (10) ◽  
Author(s):  
Miguel Johnson ◽  
Lorna Cook ◽  
Fabio Rapisarda ◽  
Riccardo Bonomi ◽  
Dibendu Betal
Keyword(s):  
Breast Cancer ◽  
Radiation Therapy ◽  
Case Report ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Skin Lesions ◽  
Review Of The Literature ◽  
Dominant Disease ◽  
Ongoing Surveillance

Abstract Neurofibromatosis type 1 (NF-1)—also commonly known as Von Recklinghausen’s disease—is an autosomal dominant disease that represents a constellation of clinical features. There are well-established links between NF-1 and many tumors; however, the link between NF-1 and breast cancer has more recently been elucidated. While the management of breast cancer is generally well established, there are unique challenges noted in patients with NF-1. There may be delayed presentations due to difficulty in differentiating underlying neurofibroma from a sinister breast mass. Additionally, multiple skin lesions seen in NF-1 create challenges in the interpretation of mammography. Furthermore, a surgical conundrum is created, as these patients appear to have a higher risk of angiosarcoma following radiotherapy. A mastectomy may be the best option as it obviates the need for radiation therapy and ongoing surveillance. A case exemplifying these dilemmas and a review of the literature are presented.

scholarly journals Non-Oncological Neuroradiological Manifestations in NF1 and Their Clinical Implications

Cancers ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 1831
Author(s):  
Camilla Russo ◽  
Carmela Russo ◽  
Daniele Cascone ◽  
Federica Mazio ◽  
Claudia Santoro ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Structural Organization ◽  
Neurofibromatosis Type ◽  
Review Article ◽  
Tumor Suppressor Protein ◽  
Clinical Implications ◽  
Nf1 Gene ◽  
The Central Nervous System

Neurofibromatosis type 1 (NF1), the most frequent phakomatosis and one of the most common inherited tumor predisposition syndromes, is characterized by several manifestations that pervasively involve central and peripheral nervous system structures. The disorder is due to mutations in the NF1 gene, which encodes for the ubiquitous tumor suppressor protein neurofibromin; neurofibromin is highly expressed in neural crest derived tissues, where it plays a crucial role in regulating cell proliferation, differentiation, and structural organization. This review article aims to provide an overview on NF1 non-neoplastic manifestations of neuroradiological interest, involving both the central nervous system and spine. We also briefly review the most recent MRI functional findings in NF1.

Surgical Treatment of Cervical Arteriovenous Fistula in a Patient with Neurofibromatosis Type 1

2007 ◽  
Vol 20 (5) ◽  
pp. 566-569 ◽  
Author(s):  
A. Guzel ◽  
M. Tatli ◽  
U. Er ◽  
A. Kazanci ◽  
H.M. Ozturk ◽  
...  
Keyword(s):  
Arteriovenous Fistula ◽  
Treatment Option ◽  
Neurofibromatosis Type 1 ◽  
Surgical Excision ◽  
Neurofibromatosis Type ◽  
First Line ◽  
Endovascular Occlusion ◽  
First Line Treatment ◽  
Selection Of

Vasculopathies are frequently associated with neurofibromatosis type-1, and they are generally occlusive or stenotic type lesions. Vertebral arteriovenous fistula (AVF) is quite rare in neurofibromatosis type 1 patients. They can be treated with surgical excision or endovascular occlusion. We describe a surgically treated cervical AVF in a neurofibromatosis type 1 (NF-1) patient and discuss the selection of the patient for the surgery. Although endovascular occlusion is the first line treatment option for cervical AVFs, some selected cases can be successfully treated by surgery. Surgery should be considered as a treatment option in spite of its risks, especially for cervical AVF which is associated with fibromuscular system diseases like NF-1.

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