Neurofibromatosis type 1 is a 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. Beginning in early childhood, almost all people with neurofibromatosis...

Definition Neurofibromatosis type I (NF-1), along with Neurofibromatosis type II (a.k.a. MISME syndrome), Tuberous Sclerosis, Sturge-Weber, and Von Hippel-Lindau compromise the phakomatosis or neurocutaneous syndromes, all of which have neurologic and dermatologic lesions. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each...

J Bone Joint Surg Br. 1989 Mar;71(2):246-51. Scoliosis in neurofibromatosis. The natural history with and without operation.Calvert PT, Edgar MA, Webb PJ. Royal National Orthopaedic Hospital, Stanmore, Middlesex, England. We reviewed 47 patients with neurofibromatosis and dystrophic spinal deformities; 32 of these patients had been untreated for an average of 3.6 years...

Neurofibromatosis in children: the role of the orthopaedist Crawford and Schorry J Am Acad Orthop Surg.1999; 7: 217-230
Abstract - Type 1 neurofibromatosis (NF-1), also known as von Recklinghausen disease, is one of the most common human single-gene disorders, affecting at least 1 million persons throughout the world. It encompasses...

J Bone Joint Surg Br. 1984 Aug;66(4):495-9. Dystrophic spinal deformities in neurofibromatosis. Treatment by anterior and posterior fusion.Hsu LC, Lee PC, Leong JC.
Thirteen patients with dystrophic spinal deformities from neurofibromatosis treated by anterior and posterior fusion have been reviewed. The shortest follow-up was five years, the average seven years....

Spinal Deformity in Neurofibromatosis: A Grading System to Predict Progression and Surgical Outcome Podium No: 278 Thursday, February 15, 2007 02:24 PM - 02:30 PM Location: San Diego Convention Center Room 6DE
Daniel J Sucato, MD Dallas TX (a- Medtronic) Anna McClung, RN Dallas TX (a- Medtronic) Peggy Cook, RN (n)...

Neurofibromatosis is a genetic disorder (can be passed from parent to child). Neurofibromatosis (NF) affects development and growth of nerve cell (neural) tissues. It causes tumors to grow on nerves (neurofibromas) on or under the skin anywhere in the body. The tumors are usually not cancerous (benign), but in some...

Neurofibromatosis is an autosomal dominant disorder that affects the bone, the nervous system, soft tissue, and the skin. At least 8 different clinical phenotypes of neurofibromatosis have been identified and are linked to at least 2 genetic disorders. Clinical manifestations increase over time. Neurologic problems and malignancy development may supervene.

Type 1 neurofibromatosis is one of the most common autosomal-dominant disorders and often includes orthopedic manifestations. We report the case of a 48-year-old woman with hemarthrosis caused by a popliteal cyst infiltrated by a diffuse neurofibroma associated with angiodysplasia. Surgical resection of this tumor was followed by postoperative hemorrhagic complications
Hemarthrosis:...

Journal of Pediatric Orthopaedics. 26(3):413-423, May/June 2006. Crawford, Alvin H. MD; Schorry, Elizabeth K. MD
Abstract - Type 1 neurofibromatosis (NF-1), also known as von Recklinghausen disease, is one of the most common human singlegene disorders, affecting at least 1 million persons throughout the world. It encompasses a spectrum of multifacted...

Neurofibromatosis 1(Von Recklinghausen's disease)Neurofibromatosis(NF) is an autosomal dominant disease characterized by disordered growth of ectodermal tissues, and is part of a group of disorders called Phakomatoses (neurocutaneous syndrome).

Search of JBJS B site for articles on scoliosis in NF. Search string site:www.jbjs.org.uk dystrophic (curvature OR scoliosis) (neurofibroma OR neurofibromatosis)

Painful rib hump: a new clinical sign for detecting intraspinal rib displacement in scoliosis due to neurofibromatosis Andreas Gkiokas1 , Socratis Hadzimichalis2 , Elias Vasiliadis1 , Marina Katsalouli3 and Georgios Kannas2
Scoliosis 2006, 1:10
Spinal cord compression and associate neurological impairment is rare in patients with...

Search String allintitle: (neurofibroma OR neurofibromatosis) more:for_health_professionals yielded 879 returns July 2007.
The first 50 were reviewed for orthopaedic interest and listed in this section (excluding abstracts)

Neurofibromatosis is an inherited disorder and is divided into two types. NF 1 is characterized by multiple neurofibromas, acoustic nerve schwannomas, gliomas of the optic nerve, meningiomas, pigmented nodules of the iris, and hyperpigmented spots on the skin (cafe au lait spots). It is associated with a gene on chromosome...

Google Search for site:www.ejbjs.org dystrophic (curvature OR scoliosis) (neurofibroma OR neurofibromatosis)

Clinical Trials on Neurofibromatosis type 1 and Plexiform Neurofibroma

Neurofibromatosis (NF) is a multisystem genetic disorder that commonly is associated with cutaneous, neurological, and orthopedic manifestations. It is the most frequent of the so-called hamartoses.
Contents:- Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography

Neurofibromatosis is often associated with a dysplastic progressive scoliosis. Enlargement of the neural foramina by erosion of adjecent neurofibomas occasionally predisposes to the adjacent attached rib entering the spinal canal. We describe such a case in which partial rib excision and later posterior spinal fusion resulted in complete recovery (full...

Neurofibromatosis, Von Recklinghausen's disease, is an autosomal dominant inherited disorder of mesenchymal tissue, where fibrous skin tumours, neurilemmomas and areas of skin pigmentation ( cafe-au-lait spots ) are typical features. Neurolemmomas can affect cranial or peripheral nerves.
Bone radiographs may show disturbance of bone architecture which can immitate polyostotic fibrous dysplasia,...

Contents - Introduction Indications Relevant Anatomy And Contraindications Workup Treatment Complications Outcome And Prognosis Future And Controversies Bibliography
The intent of this article is to identify the complications most commonly associated with the orthopedic manifestations of neurofibromatosis and to present strategies for their management.

Discussion: - neurofibroma is a benign tumor of neural origin; - has an autosomal dominant trait w/ variable penetrance & high rate of spontaneous mutation; - it is the most common single gene disorder (1...

The National Neurofibromatosis Foundation, Inc. (NNFF) is a non-profit 501(c)(3) medical foundation, dedicated to improving the health and well being of individuals and families affected by the neurofibromatoses (NF)

Surgical Correction of Dystrophic Spinal Curves in Neurofibromatosis: A Review of 56 Patients.
Spine. 24(21):2247, November 1, 1999. (abstract) Parisini, Patrizio MD *; Di Silvestre, Mario MD *; Greggi, Tiziana MD *; Paderni, Stefania MD *; Cervellati, Stefano MD *; Savini, Romolo MD *+
Conclusions. The severe dystrophic curve with anterior vertebral...

Summary: A Phase II Randomized, Cross-Over, Double-Blinded, Placebo-Controlled Trial of the Farnesyltransferase Inhibitor R115777 in Pediatric Patients with Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas (Cincinnati)