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Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Mar 10, 2013.

  1. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

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    what is your medical diagnosis for this case ?

    School of medicine.jpg
     

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  2. bysmith

    bysmith Famous Member

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  3. neo_star

    neo_star Moderator

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    Large plxiform neurofibroma and many smaller ones as well - pathognomic of "von Recklinghausen disease)" aka Neurofibromatosis - type 1.
     

  4. Emergency medicine Mike

    Emergency medicine Mike Bronze Member

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    Neurofibromatosis. I.
     

  5. dupuytren

    dupuytren Bronze Member

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    neurofibromatosis
     

  6. neo_star

    neo_star Moderator

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    A more subtle variant / manifestation of Neurofibromatosis - type 1 is axillary freckling ( which we should not forget )


    axillary freckling.JPG

    [​IMG]

    A more pronounced case



    Related Self Assessment Question


    Question 1 of 3

    On a routine school physical you note that an 11-year-old female has some freckles in her axillae. This is new since last year and there are no other new skin marks noted. She is doing well in school. The only other change is that there has been some increase in her scoliosis.
    Which condition does she likely have?

    A. Sturge-Weber syndrome
    B. neurofibromatosis, type 1 (NF-1, von Recklinghausen's disease)
    C. tuberous sclerosis
    D. CHARGE Association
    E. Beckwith-Wiedemann syndrome

    The answer is B.


    Question 2 of 3

    On a routine school physical you note that an 11-year-old female has some freckles in her axillae. This is new since last year and there are no other new skin marks noted. She is doing well in school. The only other change is that there has been some increase in her scoliosis.
    Which of the following physical findings would be expected on closer physical examination?

    A. port-wine stain in the V1 distribution
    B. subungual hamartomas
    C. Lisch nodules on the iris
    D. Hutchinson's teeth
    E. kinky brittle scalp hair

    The answer is C.


    Question 3 of 3

    On a routine school physical you note that an 11-year-old female has some freckles in her axillae. This is new since last year and there are no other new skin marks noted. She is doing well in school. The only other change is that there has been some increase in her scoliosis.
    After she has been diagnosed, you spend time counseling her about future complications. These would include which of the following?

    A. increased risk of glaucoma
    B. increased risk of melanoma
    C. decreased fertility in females due to ovarian failure
    D. increased risk of blindness due to optic gliomas
    E. short final height due to hypothyroidism

    The answer is D.


    EXPLANATION:

    Axillary freckling (also called the Crowe sign) is highly associated with NF-1. Café au lait spots and hypermelanotic macules in the axillae make up two major criteria in the diagnosis of NF-1. Having both of these would fulfill the National Institutes of Health (NIH) consensus criteria for the diagnosis of NF-1. Children with NF-1 may develop Lisch nodules, which are hamartomas on the iris. Lisch nodules do not affect vision and do not have any malignant potential. They are usually not present in early childhood, but appear during adolescence. (Jones, 1997, pp. 508”“509)

    The finding listed which is most consistent with NF-1 is Lisch nodules on the iris. These nodules are benign hamatromas of the iris. The sentinel physical finding of Sturge-Weber is a port-wine stain of the trigeminal V1 or V2 distribution. Subungual hamartomas are a common finding in tuberous sclerosis. Hutchinson's teeth are associated with congenital syphilis. Kinky brittle scalp hair is seen in Menke Kinky hair syndrome.


    [FONT=&amp]It is recommended that yearly visual acuity be followed in children with NF-1 due to the increased risk of optic nerve gliomas. These benign tumors can result in blindness. [/FONT]
    [FONT=&amp]


    [​IMG]

    optic glioma

    [/FONT]
     

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