0
Blistering on the hands, face, and arms following minor injuries or exposure to sunlight. Lightening or darkening of the skin with increased hair growth or loss of hair. Liver function is mildly abnormal.
Wiki User
∙ 13y ago
Add your answer:
Earn +20 pts
What are the name of people who are allergic to the sun?
i believe they have a skin disease called Porphyria Cutanea Tarda
What is the general presentation of non-acute porphyrias?
The erythropoietic porphyrias and porphyria cutanea tarda are considered to be chronic conditions.
How are symptoms of porphyria cutanea tarda prevented?
The first line of defense is avoidance of factors, especially alcohol, that could bring about symptoms.
What are the 4 different steps at which heme biosynthesis defects occur with non-acute porphyrias?
Congenital erythropoietic porphyria (step 4); porphyria cutanea tarda (step 5); hepatoerythopoietic porphyria (step 5); erythropoietic protoporphyria (step 8).
What is the general presentation of acute porphyrias?
All of the hepatic porphyrias--except porphyria cutanea tarda--follow a pattern of acute attacks separated by periods during which no symptoms are present.
What is the treatment for porphyria cutanea tarda?
Regular blood withdrawal is a proven therapy for pushing symptoms into remission. If an individual is anemic or cannot have blood drawn for other reasons, chloroquine therapy may be used.
What is Porphyria Cutanea Tarda?
Porphyria cutanea tarda (PCT) presents usually in the third/fourth decades of life. The condition is due to decreased activity of uro-porphyrinogen decarboxylase (UROD). Skin lesions are vesicles (blisters). This aliment may be precipitated by ingesting too much iron. In 25% of patient, diabetes may be present. Diagnosis is confirmed by high levels of uroporphyrins in the urine and stool. Treatment is dependent on the elimination of the triggering factor (remove the iron ). Spontaneous remission may occur with advancing age in some patients.
What is the symptomology of hepatoerythopoietic porphyria?
Symptoms resemble those of congenital erythropoietic porphyria. Red urine, teeth and bones; enlarged spleen; hair growth; recurrent blistering/skin infections can cause facial features and fingers to be lost.
Is there anyone that had porphyria?
First of all you must have a family history with porphyria; secondly the type of porphyria in your family must be definitely established as well as the mutation in your family. The porphyrias are a group of diseases (disorders) caused by the over-production of porphyrins, as a result of an inherited metabolic defect. In most cases the defect is genetic, except with one form porphyria cutanea tarda, that is however usually not genetic, but is acquired as a result of certain forms of liver dysfunction.A patient with porphyria have two major symptoms;the acute attack ( severe abdominal pain, nausea, vomiting, constipation, and pain in the back and limbs);and photosensitivity (due to sun-exposed areas, a skin disease develops with blisters and sores, particularly on the face and backs of the hands, forming scars, and healing takes longer than normal.Testing is very problematic and depends on the nature of your symptoms that you experience as well as in what country you live.It must be tested at a PORPHYRIA LABORATORY who are able to perform the complete range of tests necessary as incomplete results may be misleading in giving false-negative results. You have to submit a urine sample and a blood sample at a reputable porphyria laboratory for the following tests;Urine ALA and PBG measurement (this helps to exclude acute intermittent porphyria, and variegate porphyria in the acute attack).Urine porphyrin screening, followed by chromatographic quantitation if positive, to estimate the activity of acute intermittent porphyria and variegate porphyria, and to confirm porphyria cutanea tarda.Plasma fluorescence scan (this helps to exclude several porphyrias, including variegate porphyria and porphyria cutanea tarda).Erythrocyte fluorescence (this helps to exclude erythropoietic protoporphyria and congenital erythropoietic porphyria).DNA testing for the R59W mutation. (this is VP - Variegate Porphyria - South African mutation)If your results are negative, then your symptoms are not due to porphyria, and it is therefore highly unlikely that you in fact have porphyria. Your doctor must in any event help you to find another cause for your symptoms. (Source: Porphyria UCT SA)
What is the symptomology of ALA dehydratase porphyria?
Prominent symptoms are vomiting, pain in the abdomen, arms, and legs, and neuropathy (could cause breathing impairment or weakness or paralysis of the arms and legs).
What is the symptomology of variegate porphyria?
Symptoms occur only during attacks. Major symptoms include neurological problems and sensitivity to light. Skin exposed to sunlight is susceptible to burning, blistering, and scarring.
What is hydroxychloroquine?
Hydroxy chloroquine is used as an antirhematiod drug. Its a Aminoqinoline derivative. And Chloroquine sulphate also can be given if hydroxy chloroquine is prescribed. As well as it is used as antimalarial drug.
