Cutaneous porphyrias be not enough (and a surplus in one case) of certain enzymes of the heme biosynthesis (see Table: substrates and enzymes of the heme biosynthesis and the data associated with the deficiency diseases) caused, resulting in a relatively constant production of phototoxic porphyrins in the liver and bone marrow leads. These porphyrins accumulate in the skin and form upon exposure to sunlight (visible light, including the radiation near the ultraviolet range [UV]) cytotoxic free radicals which then cause recurrent or incessant skin manifestations.
among the cutaneous porphyria
Cutaneous porphyrias be not enough (and a surplus in one case) of certain enzymes of the heme biosynthesis (see Table: substrates and enzymes of the heme biosynthesis and the data associated with the deficiency diseases) caused, resulting in a relatively constant production of phototoxic porphyrins in the liver and bone marrow leads. These porphyrins accumulate in the skin and form upon exposure to sunlight (visible light, including the radiation near the ultraviolet range [UV]) cytotoxic free radicals which then cause recurrent or incessant skin manifestations. Cutaneous porphyria include porphyria cutanea tarda (PCT) Erythropoietic Protoporphyrie (EPP) Congenital erythropoietic porphyria (CEP see table: Some less common porphyria) X-linked Protoporphyrie (XLPP), sometimes considered a clinical variant of EPP Hepatoerythropoietische porphyria (HEP see table: Some less common porphyria), sometimes considered a type of PCT (extremely rare) the acute porphyria variegate porphyria (PV) and hereditary coproporphyria (HKP) also show cutaneous manifestations. For etiology and pathophysiology of porphyria, porphyria overview. In all cutaneous porphyria, except for EPP and XLPP, the cutaneous photosensitivity is expressed in a fragile skin surface and bullous rash. The lesions usually appear on sun-exposed areas (eg. As the face, neck, dorsal side of the hands and forearms) or broken skin on. The skin reaction occurs slowly, and often the patient correlation with solar radiation are unaware of. In contrast, the photosensitivity in EPP and XLPP occurs within minutes or hours after sun exposure and manifests itself in a lasting for several hours burning pain without any bubbles and often without any obvious changes to the skin. However, swelling and redness may occur. Chronic liver disease often occur in cutaneous porphyria. The cutaneous porphyria are all accompanied by increased total porphyrins in plasma; Moreover, they are specifically diagnosed via measurements of porphyrins in erythrocytes, plasma, urine and faeces as well as a genetic or enzyme analysis. Treatment includes avoiding sunlight, measures to protect the skin and sometimes other measures fail, depending on the specific diagnosis. Some less common porphyria description symptoms and complaints Diagnosis Treatment Congenital erythropoietic porphyria (Günther’s disease) severe lack of Uroporphyrinogen III Kosynthase (URO3S) in utero or shortly after birth: Severe cases manifest themselves as non-immunological hydrops soon after birth: blistering the skin, anemia, hyperbilirubinemia, red urine, dark diapers that show a red fluorescence under UV light phototherapy for hyperbilirubinemia leads to severe blistering of the Hau t. In adulthood: facial deformity, increased hair growth, corneal scarring (possibly severe), anemia, splenomegaly, red-brown discoloration of the teeth, deposition of porphyrins in bone, bone demineralization (perhaps significantly) Increased porphyrins in plasma, urine and faeces to a level higher than that other porphyria, with uroporphyrin I and coproporphyrin I as the predominant porphyrins in urine and faeces: Can nearly normal ALA and PBG in the urine by the low UROS activity (<10%) are confirmed in erythrocytes, but the test is not readily available genetic analysis of the UROS gene that homozygous or compound heterozygous mutations on chromosome 10 shows (the most common mutation is C73R) When in utero diagnosis: measurement of porphyrins in the amniotic fluid or genetic analysis avoiding sunlight (including light for treatmen development of neonatal hyperbilirubinemia) using sun protection clothing avoid skin injuries Timely treatment of secondary bacterial infections to prevent scarring splenectomy may be to keep down the Porphyrinproduktion in the bone marrow of patients with hemolytic anemia advantageous Repeated red blood cell transfusions and hydroxyurea; Deferoxamine in transfusional iron overload bone marrow transplantation may be curative Hepatoerythropoetische Porphyria Severe lack of Uroporphyrinogen decarboxylase (UROD) blistering Red urine anemia Increased Isokoproporphyrin in feces and urine Increased zinc protoporphyrin in erythrocytes (PCT to differentiate) Confirms Genetic very low UROD activity in erythrocytes analysis of UROD gene which homozygous or compound heterozygous mutations demonstrates avoiding sunlight bloodletting may advantageously similar for patients with milder cases, the treatment of severe disease treatment to born erythropoietic porphyria dual porphyria disorders arising from deficient functions of> 1 enzyme in the heme biosynthesis Clinical and biochemical manifestations of both disorders in acute porphyria: Neuro Visceral symptoms triggered by porphyrogene Substances cutaneous porphyria: hypersensitivity to sunlight with blistering and fragile skin secretion pattern of porphyrin and porphyrin precursor confirmed by family history and enzyme analysis in acute porphyria: avoid causing substances In cutaneous porphyria: skin protection and avoiding sunlight ALA = ?-aminolevulinic acid; PBG = porphobilinogen; PCT = porphyria cutanea tarda; UV = ultraviolet.