Neurofibromatosis type 1

Common Name(s)

Neurofibromatosis type 1, Neurofibromatosis 1 (NF1), Von Recklinghausen Disease

Neurofibromatosis type 1 (NF1) is an inherited condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people. Mutations in the NF1 gene cause neurofibromatosis type 1. This condition is considered to have an autosomal dominant pattern of inheritance.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neurofibromatosis type 1" for support, advocacy or research.

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Children's Tumor Foundation, Inc.

Funds research, patient support and public awareness of the neurofibromatoses (NF1, NF2, and Schwannomatosis) - genetic disorders that cause random tumor growth throughout the body.

Last Updated: 14 Jan 2013

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Littlest Tumor Foundation

The Littlest Tumor Foundation is a nonprofit organization dedicated to finding preventative therapies and threatment for tumor growth in children and providing wellness scholarships to families dealing with Neurofibromatosis (NF). Our mission is to increase understanding of NF, to empower families dealing with the disorder, and to continue research of preventative therapies.

Last Updated: 4 Feb 2013

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Neurofibromatosis Mid-Atlantic

Neurofibromatosis Mid-Atlantic is a non profit organization dedicated to helping people with Neurofibromatosis and their loved ones make sense of the complex medical disorder. We provide reliable, complete, and up to date information about Neurofibromatosis. We provide education, support, and community. There is no charge for our services.

Last Updated: 22 Dec 2012

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Neurofibromatosis, Inc., Northeast

Our mission is to find treatments and the cure for neurofibromatosis by promoting scientific research, creating awareness, and providing hope and support to those who are affected by NF.

Last Updated: 5 May 2014

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NF Network

Neurofibromatosis, Inc., now the NF Network, is a national, tax-exempt, charitable organization whose mission is to find treatments and a cure for neurofibromatosis by promoting scientific research, improving clinical care, providing outreach through education and awareness, while offering hope and support to those affected by NF.

Last Updated: 11 Mar 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neurofibromatosis type 1" for support, advocacy or research.

Logo
Children's Tumor Foundation, Inc.

Funds research, patient support and public awareness of the neurofibromatoses (NF1, NF2, and Schwannomatosis) - genetic disorders that cause random tumor growth throughout the body.

https://www.ctf.org

Last Updated: 14 Jan 2013

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Littlest Tumor Foundation

The Littlest Tumor Foundation is a nonprofit organization dedicated to finding preventative therapies and threatment for tumor growth in children and providing wellness scholarships to families dealing with Neurofibromatosis (NF). Our mission is to increase understanding of NF, to empower families dealing with the disorder, and to continue research of preventative therapies.

http://www.littlesttumor.org

Last Updated: 4 Feb 2013

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Neurofibromatosis Mid-Atlantic

Neurofibromatosis Mid-Atlantic is a non profit organization dedicated to helping people with Neurofibromatosis and their loved ones make sense of the complex medical disorder. We provide reliable, complete, and up to date information about Neurofibromatosis. We provide education, support, and community. There is no charge for our services.

http://www.nfmidatlantic.org

Last Updated: 22 Dec 2012

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Neurofibromatosis, Inc., Northeast

Our mission is to find treatments and the cure for neurofibromatosis by promoting scientific research, creating awareness, and providing hope and support to those who are affected by NF.

http://www.nfincne.org

Last Updated: 5 May 2014

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NF Network

Neurofibromatosis, Inc., now the NF Network, is a national, tax-exempt, charitable organization whose mission is to find treatments and a cure for neurofibromatosis by promoting scientific research, improving clinical care, providing outreach through education and awareness, while offering hope and support to those affected by NF.

http://www.nfnetwork.org

Last Updated: 11 Mar 2013

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General Support Organizations

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General Resources

Understanding Neurofibromatosis

Booklet for individuals who have been recently diagnosed with NF.

Uploaded By: NF Network

Updated 11 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Neurofibromatosis type 1" returned 343 free, full-text research articles on human participants. First 3 results:

[Myxedema coma in a patient with type 1 neurofibromatosis: rare association].
 

Author(s): Denise Tieko Sasazawa, Daniela Miti Tsukumo, Cristina Alba Lalli

Journal: Arq Bras Endocrinol Metabol. 2013 Dec;57(9):743-7.

 

Myxedema coma, a rare but fatal emergency, is an extreme expression of hypothyroidism. We describe a 51-year-old male patient who has discontinued hypothyroidism treatment 10 months earlier and developed lethargy, edema, and cold intolerance symptoms. He also had a previous diagnosis ...

Last Updated: 9 Jan 2014

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Soft tissue perineurioma and other unusual tumors in a patient with neurofibromatosis type 1.
 

Author(s): Inga-Marie Schaefer, Philipp Ströbel, Aung Thiha, Jan Martin Sohns, Christian Mühlfeld, Stefan Küffer, Gunther Felmerer, Adam Stepniewski, Silke Pauli, Abbas Agaimy

Journal:

 

Perineurioma is a rare benign peripheral nerve sheath tumor featuring perineurial differentiation. Perineurioma occurs sporadically with only one reported case in the setting of neurofibromatosis type 1 (NF-1). We present a 6.7-cm soft tissue perineurioma of the lower leg in a 51-year-old ...

Last Updated: 2 Dec 2013

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Pseudoarthrosis of the hand in neurofibromatosis type 1: a case report.
 

Author(s): Faruk İncecik, M Özlem Hergüner, Tuğsan Ballı, Şakir Altunbaşak

Journal: Turk. J. Pediatr.. ;55(3):335-6.

 

Neurofibromatosis (NF) is a disorder with a wide spectrum of clinical manifestations. Here, we describe a 16-year-old boy with NF1 who had pseudoarthrosis of the 4th and 5th fingers of the left hand. He had specific cutaneous lesions and Lisch nodules in the iris. Because NF1 affects ...

Last Updated: 12 Nov 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Neurofibromatosis type 1" returned 29 free, full-text review articles on human participants. First 3 results:

Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.
 

Author(s): Anna Abramowicz, Monika Gos

Journal: Dev Period Med. ;18(3):297-306.

 

Neurofibromatosis type I (NF1) is a disease associated with the presence of benign neurofibromas and malignant tumours of the central and peripheral nervous system, that are accompanied by characteristic changes in the skin, such as café-au-lait spots or axillary freckling. In 50% ...

Last Updated: 3 Sep 2014

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Renal artery stenosis due to neurofibromatosis type 1: case report and literature review.
 

Author(s): Lian Duan, Kai Feng, Anli Tong, Zhiyong Liang

Journal:

 

Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant disorder. The most common vascular abnormality in patients with NF1 is bilateral or unilateral renal artery stenosis.

Last Updated: 2 Apr 2014

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[Neurofibromatosis type 1 - description of clinical features and molecular mechanism of the disease].
 

Author(s): Barbara Bikowska-Opalach, Teresa Jackowska

Journal: Med Wieku Rozwoj. ;17(4):334-40.

 

Neurofibromatosis type 1 (NF1) called also von Recklinghausen's disease is an autosomal dominant genetic disorder with a  complex clinical course. Clinical signs and symptoms concern mainly skin (with pigmentation abnormalities- café au lait macules, axillary/groin freckling and ...

Last Updated: 12 Feb 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Neurofibromatosis Type 1 Patient Registry
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 10 Nov 2014

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Multi-Center Project: Spinal Abnormalities in Neurofibromatosis Type1 (NF1) Patients
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 24 Apr 2008

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Neuropsychological Impairment and Quality of Life in Neurofibromatosis Type 1
 

Status: Recruiting

Condition Summary: Neurofibromatosis Type 1

 

Last Updated: 6 Jun 2014

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