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DDx

Discussion in 'Spot Diagnosis' started by J.P.C. Peper, Aug 23, 2012.

  1. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    What's your diagnosis?

    It's genetic. Also, the patient prefers to remain indoors.

    I'll post the correct answer in about three days!

    DDx.jpg
     

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  2. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    If anyone has an idea, there's still time.

    I'll post the correct answer in another three days.
     


  3. faezekhademi

    faezekhademi Famous Member

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    sclerodermia
     


  4. Emergency medicine Mike

    Emergency medicine Mike Bronze Member

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    Maybe sclerodermia facialis.
     


  5. dr ammar_y

    dr ammar_y Well-Known Member

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    sclerodermia facialis. !!!!

     


  6. Omda

    Omda Famous Member

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    scleroderma
     


  7. Nazim

    Nazim Well-Known Member

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    smooth philtrum. Maybe a patient who has suffered Fetal Alcohol Syndrome
     


  8. Hazem Elnady

    Hazem Elnady Young Member

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    erythropoietic protoporphyria is a relatively mild form of porphyria, although very painful, which arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue The severity varies
     


  9. dofus kamas

    dofus kamas Famous Member

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    sclerodermia facialis.?
     


  10. J.P.C. Peper

    J.P.C. Peper Bronze Member

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    Correct answer:

    Erythropoietic protoporphyria.

    Both autosomal dominant and recessive inheritence have been seen. Symptoms are provoked by sun exposure. I have nothing more to add to Hazem Elnady's post.
     


  11. neo_star

    neo_star Moderator

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    Erythropoetic Protoporphyria

    - Autosomal dominant
    - Ferrochelatase def.
    - Prognosis favorable ”“ normal life span
    Clinical Manifestations
    - Primarily a photosensitivity syndrome : in childhood cutaneous symptoms of the skin such as burning or itching after light exposure occurs. Burning is often accompanied by erythema and edema. Light thru a window pane may evoke the symptoms. Chronic symptoms may occur causing scarring and thickening of the skin in light exposed areas with symptoms being more severe in summer.
    - Liver disease ”“ a minority get liver damage, sometimes even liver cirrhosis from porphyrin crystals which accumulate in hepatic parenchyma. Gall stones are very common.
    - Neuropathy ”“ eventually there can be enough ↑ in porphobilinogen to result in a neuropathy
    Rx - β carotene ( takes 1 ”“ 3 mo after initiation of Rx to show improvement )

    [​IMG]



    I have posted my notes on porphyria here - Board Cracking Questions in Biochemistry

    (Y)
     


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