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    PCT EPA: Presentation

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    mv76jvykyp

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    PCT EPA: Presentation

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    4 views2 pages

    PCT EPA: Presentation

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    mv76jvykyp

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    © All Rights Reserved
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    PCT EPA

    May be acquired (75%) due to acquired enzyme Acquired chronic bullous disease.
    deficiency restricted to liver.

    Genetic (25%) where the enzyme deficiency is present


    in all tissues including the liver.

    Deficiency of UROD leading to accumulation of Collagen VII is the target antigen.


    uroporphyrin.

    Presentation Has 2 clinical forms:


     Increased fragility on light exposed areas (minor  Localized mechano-bullous form (localized to sites
    trauma to the hands causes sharply marginated of trauma and clinically resembles genetic dystrophic
    erosions). epidermolysis bullosa).

     Painful Bullae may occur, then become crusted.  Generalized BP-like from (indistinguishable
    clinically from BP but only immunologically).
     Heals with occurs over a few weeks leaving
    atrophic scars, milia and often mottled hyper-or  Heals with scarring, milia and hyperpigmentation.
    hypopigmentation.

    Other features include patches of scarring alopecia


    (after scalp bullae), hypertrichosis of the face, melasma-
    like hyperpigmentation, photoinduced onycholysis,
    and morphoea- like plaques on the head and upper
    trunk.

    Occurs at any age


    Autoantibodies are IgG
    Pathology: Pathology:
     Subepidermal bullae with sparse  Subepidermal bulla with fibrin, roof of blister
    inflammatory infiltrate. intact; upper dermal infiltrate with
     Festooning of dermal papillae into the bullae. neutrophils.
    Infiltrate:
     “caterpillar bodies” (eosinophilic, linear
     Heavy predominantly neutrophil infiltrate in
    BMZ material; collagen IV). generalised.
    DIF:
     Sparse or absent in localised.
     IgG/C3 around vessels and BMZ (likely due to
    “trapping” of antibodies). Direct IF:
     Positive in all cases and shows linear IgG at the
    BMZ >C3 (U-serrated immunodeposition pattern).

    Salt-split:
     Ab to the dermal “floor”
    Indirect IF:
     Positive in only 50% of cases (IgG).
    Prognosis: Prognosis:
     Generalised shows remission.
    It leads to clinical remission within 6 months
    and biochemical remission after 6-15 months,  Localised shows prolonged course.
    at which point treatment is stopped.
    Treatment: Treatment:
    Steroids + dapsone are probably the best first-line
     Opaque sunscreens, stop of alcohol or
    estrogen therapy (prevent exacerbation of treatment, certainly in children.
    the disease), and TTT of hepatitis C if
    present.
     Low-dose antimalarials 125-250 mg
    taken twice/week (the treatment of choice).

     Venesection (500 mL of blood are removed


    every week or every two weeks) depletes iron
    stores and eliminates hepatic iron
    overload, thus restoring normal enzyme
    activity.

     Erythropoietin (TTT of choice in renal


    failure) mobilizes hepatic iron into
    hemoglobin and is the where patients are
    too anaemic for venesection and cannot
    excrete chloroquine.

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