Porphyria cutanea tarda

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Summary of Porphyria cutanea tarda

Porphyria cutanea tarda (PCT) is the most common sub-type of porphyria. PCT results from low levels of an enzyme involved in heme production and often results in skin manifestations.

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Porphyria cutanea tarda

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Chapter 57 Porphyria TREATMENT MEDICATIONS ▪ Intravenous hemin ▪ Symptomatic treatment (e.g. antiemetics, pain medications) Figure 57.1 The urine of an individual with porphyria (right). PORPHYRIA CUTANEA TARDA (PCT) osms.it/porphyria-cutanea-tarda PATHOLOGY & CAUSES ▪ Blistering cutaneous lesions of sunlightexposed skin TYPES ▪ PCT Type I: acquired disease ▪ PCT Type II: autosomal dominant disease CAUSES ▪ Impaired function of uroporphyrinogen decarboxylase (UROD) enzyme → porphyrins overproduction, accumulation → photosensitizing porphyrins in skin damage proteins, lipids, basement membrane → cutaneous lesions RISK FACTORS ▪ ▪ ▪ ▪ ▪ Alcohol Exposure to tobacco smoke Hormonal imbalances Infectious disease (e.g. HIV, hepatitis C) Hemochromatosis, iron overloading COMPLICATIONS ▪ Cirrhosis, hepatocellular carcinoma SIGNS & SYMPTOMS ▪ Increased mechanical fragility after sunlight exposure → painful vesicles, blisters on hands/face (minor trauma) ▪ Increased facial hair growth (e.g. hypertrichosis) ▪ Hardened yellow skin lesions (e.g. scleroderma-like plaques) ▪ Hypermelanosis (brownish skin pigmentation) ▪ Abnormal urine color DIAGNOSIS LAB RESULTS ▪ Elevated porphyrins level (orange-red ﬂuorescence on Wood lamp) ▪ Elevated porphyrins level in stool ▪ UROD activity in blood cells Skin biopsy of lesions ▪ Subepidermal bullae, inﬂammation ▪ Immunoﬂuorescence ▫ Immunoglobulins at dermal-epidermal junctions OSMOSIS.ORG 449

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Porphyria cutanea tarda

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A 55-year-old man comes to his primary care provider's office because of blistering on his hands, arms, and neck for the past year. His past medical history is significant for alcohol abuse. He works as a construction worker and spends many hours outside in the sun. Physical examination shows erosions and scarring with hyper-pigmentation to the face. An image of his hand is shown below:

Which of the following is the most likely diagnosis?

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