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Milia within resolving bullous pemphigoid lesions.

Dermatol Online J

August 2024

Department of Dermatology, King Abdullah Medical Complex, Jeddah, Saudi Arabia.

Bullous pemphigoid is an autoimmune blistering disease that is characterized by pruritus, cutaneous urticarial plaques, and tense bullae, with mucosal involvement. On histopathology, a subepidermal blister is predominantly evident with eosinophilic inflammatory infiltrates in the upper dermis. In a few bullous dermatoses, milia can manifest at the scar of blistering lesions or in non-lesional skin.

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The porphyrias are a group of disorders of heme biosynthesis, each characterized by an enzymatic defect in the heme biosynthetic pathway. Porphyria cutanea tarda (PCT) arises due to the inhibition of uroporphyrinogen decarboxylase (UROD) in the presence of hepatic iron and oxidative stress. Most patients with PCT have evidence of siderosis on liver biopsy, and the disease resolves with iron depletion.

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We present a case of a 34-year-old woman with a 12-week history of blistering skin lesions, ultimately diagnosed with co-existing porphyria cutanea tarda (PCT) and hereditary hemochromatosis (HH) due to a homozygous C282Y mutation. The patient's discovered genetic predisposition to iron overload played a key role in the development of clinically symptomatic PCT. Treatment with serial therapeutic phlebotomy was started, dramatically improving her symptomatic cutaneous disease, iron indices, and liver function tests.

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Article Synopsis
  • - Porphyria cutanea tarda (PCT) is a common chronic skin condition often related to hepatitis C, but this case presents a rare instance triggered by hepatitis E virus (HEV) infection, leading to symptoms like skin fragility and blistering.
  • - The patient was treated with erythrocytapheresis and hydroxychloroquine, which were effective therapies, showcasing erythrocytapheresis as a good alternative to traditional phlebotomy.
  • - This case highlights the importance of considering HEV as a potential cause of PCT and suggests that erythrocytapheresis could be a promising treatment method in cases linked to viral infections.
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