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    Pathophysiology Nf1.Nms Ortho

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    Siena
    The document discusses the pathophysiology of neurofibromatosis type 1 from both a book-based and client-based perspective. Genetically, it is caused by a mutation in the neurofibromin 1 gene, which results in dysfunctional tumor suppression and uncontrolled cell proliferation. This leads to formation of multiple neurofibromas on nerve sheaths and other lesions throughout the body, as well as abnormalities like scoliosis, café-au-lait spots, and learning disabilities. The client presented with severe spinal curvature, neurofibromas, and other characteristic physical signs of the condition.

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    Pathophysiology Nf1.Nms Ortho

    Uploaded by

    Siena
    96 views4 pages
    The document discusses the pathophysiology of neurofibromatosis type 1 from both a book-based and client-based perspective. Genetically, it is caused by a mutation in the neurofibromin 1 gene, which results in dysfunctional tumor suppression and uncontrolled cell proliferation. This leads to formation of multiple neurofibromas on nerve sheaths and other lesions throughout the body, as well as abnormalities like scoliosis, café-au-lait spots, and learning disabilities. The client presented with severe spinal curvature, neurofibromas, and other characteristic physical signs of the condition.

    Original Description:

    NEUROFIBROMATOSIS TYPE 1; NEUROMUSCULAR SCOLIOSIS PATHOPHYSIOLOGY FLOW CHART DIAGRAM

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    The document discusses the pathophysiology of neurofibromatosis type 1 from both a book-based and client-based perspective. Genetically, it is caused by a mutation in the neurofibromin 1 gene, which results in dysfunctional tumor suppression and uncontrolled cell proliferation. This leads to formation of multiple neurofibromas on nerve sheaths and other lesions throughout the body, as well as abnormalities like scoliosis, café-au-lait spots, and learning disabilities. The client presented with severe spinal curvature, neurofibromas, and other characteristic physical signs of the condition.

    Copyright:

    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
    Download as docx, pdf, or txt
    96 views4 pages

    Pathophysiology Nf1.Nms Ortho

    Uploaded by

    Siena
    The document discusses the pathophysiology of neurofibromatosis type 1 from both a book-based and client-based perspective. Genetically, it is caused by a mutation in the neurofibromin 1 gene, which results in dysfunctional tumor suppression and uncontrolled cell proliferation. This leads to formation of multiple neurofibromas on nerve sheaths and other lesions throughout the body, as well as abnormalities like scoliosis, café-au-lait spots, and learning disabilities. The client presented with severe spinal curvature, neurofibromas, and other characteristic physical signs of the condition.

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    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
    Download as docx, pdf, or txt
    of 4

    A.

    PATHOPHYSIOLOGY BOOK BASED / CLIENT BASED


    I. Book Based

    PREDISPOSING FACTORS
    >Family History of Neurofibromatosis/
    Tumors
    BIGGEST RISK FACTOR: GENETICS!

    >De Novo Specific Mutation

    CAUSE
    GENETIC (MUTATION) IN
    NEUROFIBROMIN 1 GENE
    PROTEIN

    Tumor Suppressing Agent


    Dysfunction

    Improper regulation of cell


    proliferation and
    differentiation

    Uncontrolled cell proliferation


    Nerve Sheath Other Lesions
    Brain Tumors Spinal Cord Abdominal
    Tumors Tumors Tumors
    Learning
    Disabilities
    Formation of Increased
    Multiple Optic Brainstem Cerebellar
    Neurofibromas, risk of other
    Glioma Glioma Glioma
    Neurofibromas at tumors
    leiomyomas,
    Schwann cells/
    adenocarcinoma, Seizures
    fibroblasts
    neuroendocrine
    function (4-7%)

    Breakdown of peri- Asymmetric, Neurologic Bony


    neural layer and noncorrecta alterations Abnormalities
    disorganization
    v of ble visual Abnormalities of
    supporting cells loss melanocytes

    Interference with Long bone abnormalities


    development of spine
    Dermal Plexiform
    Neurofib Neurofibr
    Dystrophic Iris
    roma oma Axillary or
    Scoliosis hamartomas
    inguinal (Lisch nodules)
    freckles
    Kyphoscoliosis
    Weakened Thinning
    (Crowe
    vertebral of cortex,
    Pruritus Bony Severe Sign)
    bones bowing,
    erosion spinal psudarthr
    and curvatures osis
    Non- Multiple café-
    pain (kyphosis/
    Dystrophic au-lait spots
    rotational
    Scoliosis Short
    deformities
    Stature
    II. Client Based

    PREDISPOSING FACTORS

    >De Novo Specific Mutation

    CAUSE
    GENETIC (MUTATION) IN
    NEUROFIBROMIN 1 GENE
    PROTEIN

    Tumor Suppressing Agent


    Dysfunction

    Improper regulation of cell


    proliferation and
    differentiation

    Uncontrolled cell proliferation


    Nerve Sheath Spinal Cord Other Lesions
    Tumors Tumors

    Formation of
    Multiple
    Neurofibromas at
    Schwann cells/
    fibroblasts Dystrophic Interference with Seizures
    development of
    Scoliosis
    spine

    Breakdown of peri-
    Bony
    neural layer and
    Abnormalities
    disorganization of Abnormalities of melanocytes
    supporting cells

    Severe Long bone abnormalities


    spinal
    curvatures
    Plexiform
    (almost 90
    Neurofibroma Axillary or
    degrees
    Cobb’s) inguinal
    freckles
    (rotational Short
    Pseudarthrosis
    deformities) (Crowe Sign) Stature

    Bony
    erosion Multiple café-
    au-lait spots

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