<unk>  is generally suspected by the presence of acute photosensitivity of the skin and can be confirmed by detection of a plasmatic fluorescence peak at 634 nm. It is also useful to find increased levels of<unk>  in feces and the demonstration of an excess of free<unk>  in erythrocytes. Screening for FECH mutation on one allele or aminolevulinic acid synthase 2 gain-of-function mutation in selected family members may be useful, especially in genetic counseling. Liver biopsy confirms hepatic disease in<unk>  by the presence of<unk>  deposits in the hepatocytes that can be observed as a brown pigment within the biliary canaliculi and the portal macrophages. Macroscopically, the cirrhotic liver can have a black color due to<unk>  deposits. Using polarized light the characteristic Maltese cross shape of birefringent crystalline pigment deposits is found. The examination of liver tissue under a Wood’s lamp reveals a red fluorescence due to<unk> . Liver biopsy is not helpful for estimation of prognosis of liver disease.
Erythropoietic protoporphyria
Xeroderma pigmentosum
Pseudoporphyria
Harderoporphyria
Thalassemia
Scurvy
Hemoglobinemia
Megavitamin-B6 syndrome