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Introduction Blistering cutaneous photosensitivity caused by hepatotoxic triggers Autosomal dominant or sporadic defect in heme synthesis deficiency of hepatic uroporphyrinogen decarboxylase accumulation of uroporphyrin 1 Recurrent flares triggered by hepatotoxins that upregulate heme/P450 synthesis alcohol and estrogen = most common triggers viral hepatitis HIV iron Associated conditions alcoholism liver disease hemochromatosis oral contraceptives Epidemiology Most common form of porphyria Middle-aged men and women Younger women on oral contraceptives Presentation Skin findings skin fragility erythema, edema, vesicles progressing to non-healing blisters, erosions, ulcers in sun-exposed areas (face, neck, dorsal hands, forearms) hypertrichosis of face hyperpigmentation of skin scleroderma-like plaques Non-skin findings no abdominal pain (as in other porphyrias) red-brown urine (port-wine urine) from porphyrin pigment Evaluation subepidermal split (bullae) linear, eosinophilic acid-Schifff positive globules ("Caterpillar bodies") direct immunofluorescence deposition of IgG, IgM, C3 in papillary dermis ↑ urine uroporphyrin levels (2-5x above coproporphyrins) Wood’s lamp distinctive orange-pink color due to ↑ uroporphyrin To monitor LFTs, iron studies, renal function test, HIV, hepatitis serologies Differential Diagnosis Pseudoporphyria (from NSAIDs) Porphyria variegata Acute intermittent porphyria Erythropoietic protoporphyria burning pain, erythema, and swelling develops on skin minutes after sun exposure no scarring or blistering protoporphyrins elevated in plasma and RBCs treatment: limit sun exposure

135 جم

Size:120 Capsules — 120 Day Supply — Ongoing Nutritional Support

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