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The secret of a rare disease: Why does Porphyria cutis type (PCT) suddenly break out in adulthood?
Porphyria cutaneous type (PCT) is the most common of all Porphyria subtypes and is characterized by the sudden onset of skin symptoms in adulthood. The onset of this disease is often related to the lack of a key enzyme in the body: uroporphyrinogen decarboxylase (UROD). The lack of this enzyme can lead to the accumulation of porphyrin compounds in the body, which can lead to a variety of skin problems.
Symptoms of Porphyria skin type often include blistering and peeling of the skin, especially in areas exposed to more sun, such as the face and hands.
Symptoms and signs
The main symptoms of PCT are skin blisters and ulcers, which usually occur with prolonged sun exposure. Many patients already have blisters or wounds on their face, hands, forearms, and calves when they seek treatment. These damaged skins heal slowly and easily leave scars. In addition to blisters, patients may also experience hyperpigmentation of the skin or increased hair growth.
Lack of vitamins and minerals
Deficiencies of certain vitamins and minerals, especially beta-carotene, vitamin A, and vitamin C, are often seen in patients with PCT. These vitamins play an important role in antioxidant protection by reducing the oxidative stress caused by porphyrins.
Studies have found that supplementation with these three vitamins can help reduce the severity of blisters.
Genetic factors
About 20% of cases of PCT are caused by genetic mutations that affect the UROD gene, thereby reducing enzyme activity. Most cases of PCT are sporadic and do not involve obvious genetic inheritance. It has been found that mutations in the HFE gene can cause iron overload, and these patients are at a higher risk of developing PCT.
Causes and exacerbating factors
In addition to genetic factors, factors such as Hepatitis C virus infection, alcohol abuse, excess iron, and exposure to certain chemicals can exacerbate the development of PCT symptoms. For patients, understanding these exacerbating factors will help them better manage their condition.
Diagnosis and Treatment
Diagnosis of PCT relies not only on the presence of skin symptoms but also requires laboratory testing to confirm high levels of urinary porphyrins in the urine. Treatment for patients mainly includes avoiding possible triggers, such as sunlight, alcohol and iron, and controlling iron levels in the body through methods such as bloodletting. Importantly, if a patient is also infected with Hepatitis C, their infection needs to be treated.
Epidemiology
The prevalence of PCT is approximately 1 in 10,000 people, with approximately 80% of cases being sporadic. Because many affected people do not show symptoms, this makes the exact prevalence difficult to estimate.
Unraveling the underlying causes behind PCT may help more patients obtain effective treatment options.
Porphyria skin type (PCT) remains an unsolved mystery to many people. Do those symptoms that suddenly appear in adulthood hide deeper health problems that deserve further exploration?
