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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Algorithm for distinguishing non-blistering cutaneous porphyrias

Algorithm for distinguishing non-blistering cutaneous porphyrias
This algorithm outlines an approach to the patient with suspected cutaneous porphyria and non-blistering photosentivity. Separate algorithms are available for the patient with suspected cutanous porphyria with blistering photosentitivity, and the patient with suspected acute (neurovisceral) porphyria. Refer to UpToDate topics on individual porphyrias for further discussions of the clinical manifestations and diagnostic evaluation. Refer to content on photosensitivity disorders for other diagnostic considerations.
EPP: erythropoietic protoporphyria; XLP: X-linked protoporphyria; FECH: ferrochelatase; ALAS2: delta-aminolevulinic acid synthase, erythroid form.
* We perform gene sequencing of the relevant gene for any patient with protoporphyria (FECH gene in EPP, ALAS2 gene in XLP). This is used for further diagnostic confirmation and especially for genetic testing and counseling of family members.
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