Porphyria cutanea tarda Symptoms and Diagnosis

Porphyria cutanea tarda
Symptoms and Diagnosis
Sporadic porphyria occurs mainly in adults. Symptoms of porphyria cutanea tarda occurring in adults through a mutation of the gene heterozygosity enzyme porphyria. If both alleles are mutated gene, then the patient is homozygous status and disease begins in childhood. The initial symptom is most common skin fragility and veziculizarea the hands, arms and sometimes face. Intensely colored urine may also occur. Of hair growth and pigmentation changes are observed spontaneously. In porphyria cutanea tarda and family can see other family members affected. Usually remain silent gene carriers. In both forms of the disease, the familial and sporadic, no history of exposure to triggers: estrogen, alcohol, hepatitis. In symptomatic porphyria family they can not be discovered. Childhood onset of porphyria cutanea tarda should indicate a homozygous or heterozygous disease.
Physical examination. The most common sign of affection is the fragility of skin after sun exposure, leading to erosion after mechanical trauma and bubbles on the hands and arms. Erosions and vesicles healing crustificate let milia, hypopigmented spots or scars. Hypertrichosis is commonly seen on the malar and temporal areas of the face but also on the arms and legs. Similar pigmentary changes include hyperpigmentation melasma of the face, plethora erythematous face, neck, chest and shoulders. Onycholysis scar and alopecia may be seen in affected patients. On the chest and back can develop scleroderma Pavement endured similar, more prominent in the preauricular area and nucala. These boards may develop dystrophic calcifications. Urine color is wine or tea.
Diagnosis.
Laboratory studies: Urinary porphyrins-level is high, similar to that of plasma and serum Efetueaza the chromatographic test to differentiate porphyrin fractions -Testing of red cells deficient enzyme activity is available Will perform the genetic tests to identify mutations Evaluate the level of iron, this viral hepatitis, HIV infection Be observed glucose intolerance and serum antinuclear antibodies. Will assess the present hemochromatosis Vitamin C-deficient level Serum alpha-fetoprotein is useful for highlighting a liver tumor.
Histological examination. Skin biopsy specimens showed dermal bubbles subepidermice with minimal inflammatory infiltrate and epidermal protrusion of the dermal papilla. Dermal blood vessels have thickened walls. Liver biopsy showed increased iron storage, steatosis, chronic inflammatory infiltyrate, fibrosis, cirrhosis and necrosis. Uroporfirina crystals are deposited near iron deposits in hepatocytes. The differential diagnosis is made with the following diseases: epidermolysis bullosa, porphyria, erythropoietic, bullous lupus erythematosus, pseudoporfiria, porphyria variegata.