Neurofibromatosis Type I: Difference between revisions

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== Prevalence  ==
== Prevalence  ==


Neruofibromatosis type 1 affects approximately 1 in 3,000 peolple worldwide.&nbsp; Neruofibromatosis occurs equally between sexes and races.<ref>Orthopaedic manifestations of neurofibromatosis type 1</ref><br>
Neruofibromatosis type 1 affects approximately 1 in 3,000 peolple worldwide.&nbsp; Neruofibromatosis occurs equally between sexes and races.<ref>Feldman DS</ref><br>


== Characteristics/Clinical Presentation  ==
== Characteristics/Clinical Presentation  ==

Revision as of 15:35, 4 March 2014

Welcome to PT 635 Pathophysiology of Complex Patient Problems This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!

Definition/Description[edit | edit source]

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Prevalence[edit | edit source]

Neruofibromatosis type 1 affects approximately 1 in 3,000 peolple worldwide.  Neruofibromatosis occurs equally between sexes and races.[1]

Characteristics/Clinical Presentation[edit | edit source]

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Associated Co-morbidities[edit | edit source]

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Medications[edit | edit source]

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Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]

Neruofibramatosis type 1 is diagnosed through through clinical assessment including patient history and physical examination.  The National Institutes of Health have developed a diagnostic criteria for NF1 based upon common clinical features.  The diagnosis is made by an individual having 2 or more of the following features:

  • Six or more cafe au laite macules > 5 mm in prepubertal individuals and > 15 mm in diameter in adults.
  • Two or more neruorfibromas.
  • Freckling in the axillary or inguinal regions.
  • Optic glioma visual pathways tumors most often presenting as grade I pilocytic astrocytomas.
  • Two or more Lisch Nodules
  • Abnormal development of the spine (scoliosis), the sphenoid bone, or the tibia.
  • A first degree relative with NF1

Early diagnosis is challenging because of the variable characteristics of NF1.[2]  Diagnosis my be delayed due to the different ages that features can emerge. [3]

Etiology/Causes[edit | edit source]

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Systemic Involvement[edit | edit source]

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Medical Management (current best evidence)[edit | edit source]

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Physical Therapy Management (current best evidence)[edit | edit source]

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Alternative/Holistic Management (current best evidence)[edit | edit source]

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Differential Diagnosis[edit | edit source]

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Case Reports/ Case Studies[edit | edit source]

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Resources
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Recent Related Research (from Pubmed)[edit | edit source]

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References[edit | edit source]

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  1. Feldman DS
  2. Julian N, Edwards NE, DeCrane S, Hingtgen CM. Neurofibromatosis 1: Diagnosis and Management. The Journal for Nurse Practitioners. 2014;10(1):30-35.
  3. Feldman DS, Jordan C, Fonseca L. Orthopaedic manifestations of neurofibromatosis type 1. J Am Acad Orthop Surg. 2010;18(6):346-57.