Spot Diagnosis - Rare Hematological Condition

Discussion in 'Spot Diagnosis' started by neo_star, Jan 18, 2013.

  1. neo_star

    neo_star Moderator

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    Identifythecondition_zps891b6b9f.jpg

    The most severe form of this disease ( as portrayed in the challenge ) must have given rise to stories of werwolves and vampires - becos a blood-meal containing heme would suppress the heme synthesis pathway.

    Can you identify this autosomal recessive condition ?
     

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  2. Mishary almalkey

    Mishary almalkey Active member

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    cutaneous porphyria
     

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  3. Emergency medicine Mike

    Emergency medicine Mike Bronze Member

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    Cutaneous porphyria.
     

  4. neo_star

    neo_star Moderator

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    Answer: Congenital Erythropoetic Porphyria

    - Autosomal recessive
    - Uroporphyrinogen III cosynthase def.
    Photosensitivity in this very rare autosomal recessive disorder may begin in infancy. Clinical manifestations include skin and ‘erythron’.
    Skin – cutaneous lesions such as vesicles & bullae form on light exposed skin which after time of ulceration & erosion cause scarring. The scarring can cause severe defoemities particularly of the face and fingers
    Other complications include – hypertrichosis, alopecia, conjunctivitis, keratitis.
    Teeth are red and fluorescent.
    Erythron – Crystals in RBC cause hemolysis and the most severe forms have given rise to stories of vampires and werwolves ( becos a blood meal would suppress the heme synthesis pathway ).

    Lab – Urine has port wine color, ↑ uroprphyrin
    Blood – hemolytic anemia, Bone marrow – normoblastic hyperplasia ( red fluorescence 400 nm )
    Feces - ↑ uroprphyrin, ↑ Coproprphyrin


    Rx

    - Prophylaxis for skin lesions, Antibiotics for infected skin lesions
    - Splenectomy to reduce hemolysis & prevent excessive porphyrin production
    - transfusion will ↓ erythropesis & ↓ porphyrin production
    - hematin i.v administration has been effective in a few patients as also bone marrow transplantation
    - β carotene may be tried but not as effective as in protoporphyria.


    [​IMG]

    I have posted my notes on porphyria here - http://forum.facmedicine.com/biochemistry/11331-board-cracking-questions-biochemistry.html#post40846
     

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