Porphyrias are a group of metabolic disorders caused by defects or changes in enzymes involved in the heme biosynthesis pathway. These disorders can present with symptoms affecting the nerves and muscles (neurovisceral symptoms), the skin (cutaneous symptoms), or a combination of both.
One of the most common forms of porphyria is Porphyria Cutanea Tarda (PCT), which is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD). This deficiency results in the accumulation of certain compounds in the liver and their eventual appearance in the blood and urine.
PCT is characterized by photosensitivity, and it is typically caused by a heterozygous mutation in the UROD gene. On the other hand, Hepatoerythropoietic Porphyria (HEP) is a rare form of porphyria that is similar to PCT in terms of symptoms, occurring due to a homozygous mutation in the UROD genes.
Porphyria cutanea tarda is a type of porphyria that primarily affects the skin. It has an estimated prevalence of 1 per 100,000 individuals. According to a study conducted in Norway, the prevalence of PCT is estimated to be around 1 in 10,000 individuals. This condition is more likely to occur in middle-aged adults and its onset is generally gradual.
In the United States, the prevalence is reported to be lower, with an estimated 1 in 25,000 individuals. It is important to note that the actual prevalence of may vary based on geographical location and population characteristics. Though, it is thought to be related to a deficiency in the enzyme uroporphyrinogen decarboxylase, which leads to the accumulation of porphyrins in the skin.
It affects individuals of both genders equally. However, certain predisposing factors may influence the likelihood of developing PCT in males or females. For instance, women who use estrogen-based products may have an increased risk of developing PCT. At the same time, men who consume alcohol and are infected with the hepatitis C virus (HCV) are also more susceptible to this condition.
Porphyria cutanea tarda is characterized by the deficiency of the enzyme uroporphyrinogen decarboxylase. This deficiency results in an accumulation of porphyrins, naturally occurring compounds in the body. The excess porphyrins enter the bloodstream and can interact with external sources of light, particularly blue light with a wavelength of 410 nm.
This interaction energizes the porphyrin molecules, releasing energy when returning to their original state. This energy is transmitted to molecular oxygen, creating singlet-excited oxygen, which can cause oxidative damage to essential biological compounds such as lipids, proteins, and cell membranes.
This oxidative damage eventually lead to cell death and result in blister formation and skin fragility, a hallmark of PCT. The activation of the complement system causes mast cells to release their contents and increase the amount of TGF-β, contributing to tissue hardening.
The etiology of porphyria cutanea tarda is not fully understood, but it is thought to be related to a combination of genetic and environmental factors. The most important genetic factor is the enzyme uroporphyrinogen decarboxylase deficiency. The UROD gene mutations are inherited in an autosomal dominant fashion and are found in 80-90% of patients with PCT.
Environmental factors such as excessive alcohol consumption, iron overload, and viral hepatitis increase the risk of PCT by causing liver damage. Alcohol can induce the accumulation of iron in the liver and inhibit the activity of UROD, which leads to increased production of porphyrins. Iron overload also increases the risk by leading to oxidative stress and inflammation in the liver.
Viral hepatitis infections, particularly hepatitis C, are associated with an increased risk of PCT, causing liver damage and leading to a deficiency in UROD. Some medications, such as estrogens, androgens, chloroquine, and other drugs, can also increase the risk of PCT by inhibiting the activity of UROD. Additionally, exposure to environmental toxins such as polychlorinated biphenyls and dioxins may also increase the risk of PCT.
The prognosis of porphyria cutanea tarda varies depending on the condition’s severity and any underlying medical conditions. In general, PCT is a chronic condition characterized by episodes of symptoms, which may be triggered by environmental factors such as alcohol consumption and iron overload. With appropriate treatment, most patients with PCT can manage their symptoms and maintain a good quality of life.
The mainstay treatment for PCT is phlebotomy which is used to reduce iron overload and help lower porphyrin levels. This treatment effectively controls disease symptoms and prevents further liver damage. In cases where liver damage has already occurred, liver transplantation may be considered a treatment option. Patients with PCT should also avoid alcohol and medications that can worsen their condition.
Clinical History
The most common signs of porphyria cutanea tarda include fragile and blistering skin on the hands, forearms, and face and discolored urine. Exposure to sunlight can worsen the symptoms, and a history of exposure to certain environmental or medical factors, such as alcohol or estrogen, may be present. However, some patients may not be aware of a familial relationship to the disease, as some carriers of the genetic mutation do not experience symptoms.
Additionally, some patients may not have any known exposure to inducing factors, and childhood-onset may indicate a familial form of the disease. Clinically, type I and type II porphyria cutanea tarda present similar symptoms, and the distinction between the two types is not essential for managing the disease. However, understanding the underlying etiology of the condition can be helpful for patient counseling and for identifying potential risk factors.
In order to differentiate between type I and type II PCT, a detailed medical history from patients, including information about any potential susceptibility factors such as alcohol consumption, smoking, exposure to chemicals, and use of estrogen-containing medications, should be obtained. Evidence of neurovisceral symptoms can also help distinguish PCT from other types of porphyria.
A family history of the disease is typically not informative, but a thorough medication history can help rule out drug-induced eruptions. Photosensitivity causes skin damage when exposed to the sun, resulting in blisters, vesicles, and bullae on areas such as the hands, forearms, neck, face, and feet. This can lead to scarring and small bumps filled with keratin on the affected areas. It is often not immediately apparent that sun exposure is causing these skin issues, as the symptoms may not appear until later.
Physical Examination
PCT is characterized by the formation of vesicles, skin blisters, bullae, and augmented fragility of the skin, which can later resolve and leave behind hyper- and hypopigmented scars, milia (small yellowish-white keratin-filled papules), and contractures mimicking the skin findings of scleroderma, leading to the mislabeling of this phenomenon as pseudoscleroderma.
Scarring alopecia on the scalp can cause diffuse hair loss, and pigment changes ranging from blue to purplish brown can be seen in the facial, orbital, or orbital malar regions. An erythematous suffusion similar to polycythemia vera can also appear on sun-exposed areas. A non-virilizing type of hypertrichosis around the temple, cheeks, and forearms is seen in women.
This is sometimes the only physical manifestation in patients. PCT is a delayed blistering photosensitivity, meaning that patients may not associate sun exposure with their skin lesions, which arise from minor trauma and can sometimes get infected and cause intense pain and inflammation.
Differential Diagnoses
Bullous Disease of Dialysis
Congenital Erythopoietic Porphyria
Epidermolysis bullosa acquisita
Hereditary corporphyria
Hydroa Vacciniforme
Polymorphous light eruption
Variegate Porphyria
The management of porphyria cutanea tarda (PCT) begins with avoiding triggers and risk factors that can worsen the condition. The most significant of these is exposure to sunlight, as the wavelengths that activate porphyrins are within the 400-410 nm range. To minimize sun exposure, it is recommended to use titanium dioxide or zinc oxide-containing sunscreens and protective clothing.
Additionally, keeping affected skin areas clean and hygienic can help prevent skin infections and relieve associated pain with oral pain relievers. Other lifestyle changes to be avoided include alcohol consumption, smoking, estrogen therapy, and excessive iron intake. The most commonly used treatments for PCT are phlebotomy and hydroxychloroquine.
The choice between these treatments depends on the individual’s medical history and risk factors. Iron chelation therapy, which involves removing excess iron from the body, was once considered an option for patients with iron overload-induced PCT. However, recent research suggests that phlebotomy and hydroxychloroquine are more effective. However, deferoxamine or deferasirox may be considered alternative options for individuals unable to tolerate these treatments.
The management of porphyria cutanea tarda (PCT) begins with avoiding triggers and risk factors that can worsen the condition. The most significant of these is exposure to sunlight, as the wavelengths that activate porphyrins are within the 400-410 nm range. To minimize sun exposure, it is recommended to use titanium dioxide or zinc oxide-containing sunscreens and protective clothing.
Additionally, keeping affected skin areas clean and hygienic can help prevent skin infections and relieve associated pain with oral pain relievers. Other lifestyle changes to be avoided include alcohol consumption, smoking, estrogen therapy, and excessive iron intake. The most commonly used treatments for PCT are phlebotomy and hydroxychloroquine.
The choice between these treatments depends on the individual’s medical history and risk factors. Iron chelation therapy, which involves removing excess iron from the body, was once considered an option for patients with iron overload-induced PCT. However, recent research suggests that phlebotomy and hydroxychloroquine are more effective. However, deferoxamine or deferasirox may be considered alternative options for individuals unable to tolerate these treatments.
The management of porphyria cutanea tarda (PCT) begins with avoiding triggers and risk factors that can worsen the condition. The most significant of these is exposure to sunlight, as the wavelengths that activate porphyrins are within the 400-410 nm range. To minimize sun exposure, it is recommended to use titanium dioxide or zinc oxide-containing sunscreens and protective clothing.
Additionally, keeping affected skin areas clean and hygienic can help prevent skin infections and relieve associated pain with oral pain relievers. Other lifestyle changes to be avoided include alcohol consumption, smoking, estrogen therapy, and excessive iron intake. The most commonly used treatments for PCT are phlebotomy and hydroxychloroquine.
The choice between these treatments depends on the individual’s medical history and risk factors. Iron chelation therapy, which involves removing excess iron from the body, was once considered an option for patients with iron overload-induced PCT. However, recent research suggests that phlebotomy and hydroxychloroquine are more effective. However, deferoxamine or deferasirox may be considered alternative options for individuals unable to tolerate these treatments.
The management of porphyria cutanea tarda (PCT) begins with avoiding triggers and risk factors that can worsen the condition. The most significant of these is exposure to sunlight, as the wavelengths that activate porphyrins are within the 400-410 nm range. To minimize sun exposure, it is recommended to use titanium dioxide or zinc oxide-containing sunscreens and protective clothing.
Additionally, keeping affected skin areas clean and hygienic can help prevent skin infections and relieve associated pain with oral pain relievers. Other lifestyle changes to be avoided include alcohol consumption, smoking, estrogen therapy, and excessive iron intake. The most commonly used treatments for PCT are phlebotomy and hydroxychloroquine.
The choice between these treatments depends on the individual’s medical history and risk factors. Iron chelation therapy, which involves removing excess iron from the body, was once considered an option for patients with iron overload-induced PCT. However, recent research suggests that phlebotomy and hydroxychloroquine are more effective. However, deferoxamine or deferasirox may be considered alternative options for individuals unable to tolerate these treatments.
The management of porphyria cutanea tarda (PCT) begins with avoiding triggers and risk factors that can worsen the condition. The most significant of these is exposure to sunlight, as the wavelengths that activate porphyrins are within the 400-410 nm range. To minimize sun exposure, it is recommended to use titanium dioxide or zinc oxide-containing sunscreens and protective clothing.
Additionally, keeping affected skin areas clean and hygienic can help prevent skin infections and relieve associated pain with oral pain relievers. Other lifestyle changes to be avoided include alcohol consumption, smoking, estrogen therapy, and excessive iron intake. The most commonly used treatments for PCT are phlebotomy and hydroxychloroquine.
The choice between these treatments depends on the individual’s medical history and risk factors. Iron chelation therapy, which involves removing excess iron from the body, was once considered an option for patients with iron overload-induced PCT. However, recent research suggests that phlebotomy and hydroxychloroquine are more effective. However, deferoxamine or deferasirox may be considered alternative options for individuals unable to tolerate these treatments.
The management of porphyria cutanea tarda (PCT) begins with avoiding triggers and risk factors that can worsen the condition. The most significant of these is exposure to sunlight, as the wavelengths that activate porphyrins are within the 400-410 nm range. To minimize sun exposure, it is recommended to use titanium dioxide or zinc oxide-containing sunscreens and protective clothing.
Additionally, keeping affected skin areas clean and hygienic can help prevent skin infections and relieve associated pain with oral pain relievers. Other lifestyle changes to be avoided include alcohol consumption, smoking, estrogen therapy, and excessive iron intake. The most commonly used treatments for PCT are phlebotomy and hydroxychloroquine.
The choice between these treatments depends on the individual’s medical history and risk factors. Iron chelation therapy, which involves removing excess iron from the body, was once considered an option for patients with iron overload-induced PCT. However, recent research suggests that phlebotomy and hydroxychloroquine are more effective. However, deferoxamine or deferasirox may be considered alternative options for individuals unable to tolerate these treatments.
The management of porphyria cutanea tarda (PCT) begins with avoiding triggers and risk factors that can worsen the condition. The most significant of these is exposure to sunlight, as the wavelengths that activate porphyrins are within the 400-410 nm range. To minimize sun exposure, it is recommended to use titanium dioxide or zinc oxide-containing sunscreens and protective clothing.
Additionally, keeping affected skin areas clean and hygienic can help prevent skin infections and relieve associated pain with oral pain relievers. Other lifestyle changes to be avoided include alcohol consumption, smoking, estrogen therapy, and excessive iron intake. The most commonly used treatments for PCT are phlebotomy and hydroxychloroquine.
The choice between these treatments depends on the individual’s medical history and risk factors. Iron chelation therapy, which involves removing excess iron from the body, was once considered an option for patients with iron overload-induced PCT. However, recent research suggests that phlebotomy and hydroxychloroquine are more effective. However, deferoxamine or deferasirox may be considered alternative options for individuals unable to tolerate these treatments.
The management of porphyria cutanea tarda (PCT) begins with avoiding triggers and risk factors that can worsen the condition. The most significant of these is exposure to sunlight, as the wavelengths that activate porphyrins are within the 400-410 nm range. To minimize sun exposure, it is recommended to use titanium dioxide or zinc oxide-containing sunscreens and protective clothing.
Additionally, keeping affected skin areas clean and hygienic can help prevent skin infections and relieve associated pain with oral pain relievers. Other lifestyle changes to be avoided include alcohol consumption, smoking, estrogen therapy, and excessive iron intake. The most commonly used treatments for PCT are phlebotomy and hydroxychloroquine.
The choice between these treatments depends on the individual’s medical history and risk factors. Iron chelation therapy, which involves removing excess iron from the body, was once considered an option for patients with iron overload-induced PCT. However, recent research suggests that phlebotomy and hydroxychloroquine are more effective. However, deferoxamine or deferasirox may be considered alternative options for individuals unable to tolerate these treatments.
The management of porphyria cutanea tarda (PCT) begins with avoiding triggers and risk factors that can worsen the condition. The most significant of these is exposure to sunlight, as the wavelengths that activate porphyrins are within the 400-410 nm range. To minimize sun exposure, it is recommended to use titanium dioxide or zinc oxide-containing sunscreens and protective clothing.
Additionally, keeping affected skin areas clean and hygienic can help prevent skin infections and relieve associated pain with oral pain relievers. Other lifestyle changes to be avoided include alcohol consumption, smoking, estrogen therapy, and excessive iron intake. The most commonly used treatments for PCT are phlebotomy and hydroxychloroquine.
The choice between these treatments depends on the individual’s medical history and risk factors. Iron chelation therapy, which involves removing excess iron from the body, was once considered an option for patients with iron overload-induced PCT. However, recent research suggests that phlebotomy and hydroxychloroquine are more effective. However, deferoxamine or deferasirox may be considered alternative options for individuals unable to tolerate these treatments.
The management of porphyria cutanea tarda (PCT) begins with avoiding triggers and risk factors that can worsen the condition. The most significant of these is exposure to sunlight, as the wavelengths that activate porphyrins are within the 400-410 nm range. To minimize sun exposure, it is recommended to use titanium dioxide or zinc oxide-containing sunscreens and protective clothing.
Additionally, keeping affected skin areas clean and hygienic can help prevent skin infections and relieve associated pain with oral pain relievers. Other lifestyle changes to be avoided include alcohol consumption, smoking, estrogen therapy, and excessive iron intake. The most commonly used treatments for PCT are phlebotomy and hydroxychloroquine.
The choice between these treatments depends on the individual’s medical history and risk factors. Iron chelation therapy, which involves removing excess iron from the body, was once considered an option for patients with iron overload-induced PCT. However, recent research suggests that phlebotomy and hydroxychloroquine are more effective. However, deferoxamine or deferasirox may be considered alternative options for individuals unable to tolerate these treatments.
The management of porphyria cutanea tarda (PCT) begins with avoiding triggers and risk factors that can worsen the condition. The most significant of these is exposure to sunlight, as the wavelengths that activate porphyrins are within the 400-410 nm range. To minimize sun exposure, it is recommended to use titanium dioxide or zinc oxide-containing sunscreens and protective clothing.
Additionally, keeping affected skin areas clean and hygienic can help prevent skin infections and relieve associated pain with oral pain relievers. Other lifestyle changes to be avoided include alcohol consumption, smoking, estrogen therapy, and excessive iron intake. The most commonly used treatments for PCT are phlebotomy and hydroxychloroquine.
The choice between these treatments depends on the individual’s medical history and risk factors. Iron chelation therapy, which involves removing excess iron from the body, was once considered an option for patients with iron overload-induced PCT. However, recent research suggests that phlebotomy and hydroxychloroquine are more effective. However, deferoxamine or deferasirox may be considered alternative options for individuals unable to tolerate these treatments.
The management of porphyria cutanea tarda (PCT) begins with avoiding triggers and risk factors that can worsen the condition. The most significant of these is exposure to sunlight, as the wavelengths that activate porphyrins are within the 400-410 nm range. To minimize sun exposure, it is recommended to use titanium dioxide or zinc oxide-containing sunscreens and protective clothing.
Additionally, keeping affected skin areas clean and hygienic can help prevent skin infections and relieve associated pain with oral pain relievers. Other lifestyle changes to be avoided include alcohol consumption, smoking, estrogen therapy, and excessive iron intake. The most commonly used treatments for PCT are phlebotomy and hydroxychloroquine.
The choice between these treatments depends on the individual’s medical history and risk factors. Iron chelation therapy, which involves removing excess iron from the body, was once considered an option for patients with iron overload-induced PCT. However, recent research suggests that phlebotomy and hydroxychloroquine are more effective. However, deferoxamine or deferasirox may be considered alternative options for individuals unable to tolerate these treatments.
Porphyrias are a group of metabolic disorders caused by defects or changes in enzymes involved in the heme biosynthesis pathway. These disorders can present with symptoms affecting the nerves and muscles (neurovisceral symptoms), the skin (cutaneous symptoms), or a combination of both.
One of the most common forms of porphyria is Porphyria Cutanea Tarda (PCT), which is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD). This deficiency results in the accumulation of certain compounds in the liver and their eventual appearance in the blood and urine.
PCT is characterized by photosensitivity, and it is typically caused by a heterozygous mutation in the UROD gene. On the other hand, Hepatoerythropoietic Porphyria (HEP) is a rare form of porphyria that is similar to PCT in terms of symptoms, occurring due to a homozygous mutation in the UROD genes.
Porphyria cutanea tarda is a type of porphyria that primarily affects the skin. It has an estimated prevalence of 1 per 100,000 individuals. According to a study conducted in Norway, the prevalence of PCT is estimated to be around 1 in 10,000 individuals. This condition is more likely to occur in middle-aged adults and its onset is generally gradual.
In the United States, the prevalence is reported to be lower, with an estimated 1 in 25,000 individuals. It is important to note that the actual prevalence of may vary based on geographical location and population characteristics. Though, it is thought to be related to a deficiency in the enzyme uroporphyrinogen decarboxylase, which leads to the accumulation of porphyrins in the skin.
It affects individuals of both genders equally. However, certain predisposing factors may influence the likelihood of developing PCT in males or females. For instance, women who use estrogen-based products may have an increased risk of developing PCT. At the same time, men who consume alcohol and are infected with the hepatitis C virus (HCV) are also more susceptible to this condition.
Porphyria cutanea tarda is characterized by the deficiency of the enzyme uroporphyrinogen decarboxylase. This deficiency results in an accumulation of porphyrins, naturally occurring compounds in the body. The excess porphyrins enter the bloodstream and can interact with external sources of light, particularly blue light with a wavelength of 410 nm.
This interaction energizes the porphyrin molecules, releasing energy when returning to their original state. This energy is transmitted to molecular oxygen, creating singlet-excited oxygen, which can cause oxidative damage to essential biological compounds such as lipids, proteins, and cell membranes.
This oxidative damage eventually lead to cell death and result in blister formation and skin fragility, a hallmark of PCT. The activation of the complement system causes mast cells to release their contents and increase the amount of TGF-β, contributing to tissue hardening.
The etiology of porphyria cutanea tarda is not fully understood, but it is thought to be related to a combination of genetic and environmental factors. The most important genetic factor is the enzyme uroporphyrinogen decarboxylase deficiency. The UROD gene mutations are inherited in an autosomal dominant fashion and are found in 80-90% of patients with PCT.
Environmental factors such as excessive alcohol consumption, iron overload, and viral hepatitis increase the risk of PCT by causing liver damage. Alcohol can induce the accumulation of iron in the liver and inhibit the activity of UROD, which leads to increased production of porphyrins. Iron overload also increases the risk by leading to oxidative stress and inflammation in the liver.
Viral hepatitis infections, particularly hepatitis C, are associated with an increased risk of PCT, causing liver damage and leading to a deficiency in UROD. Some medications, such as estrogens, androgens, chloroquine, and other drugs, can also increase the risk of PCT by inhibiting the activity of UROD. Additionally, exposure to environmental toxins such as polychlorinated biphenyls and dioxins may also increase the risk of PCT.
The prognosis of porphyria cutanea tarda varies depending on the condition’s severity and any underlying medical conditions. In general, PCT is a chronic condition characterized by episodes of symptoms, which may be triggered by environmental factors such as alcohol consumption and iron overload. With appropriate treatment, most patients with PCT can manage their symptoms and maintain a good quality of life.
The mainstay treatment for PCT is phlebotomy which is used to reduce iron overload and help lower porphyrin levels. This treatment effectively controls disease symptoms and prevents further liver damage. In cases where liver damage has already occurred, liver transplantation may be considered a treatment option. Patients with PCT should also avoid alcohol and medications that can worsen their condition.
Clinical History
The most common signs of porphyria cutanea tarda include fragile and blistering skin on the hands, forearms, and face and discolored urine. Exposure to sunlight can worsen the symptoms, and a history of exposure to certain environmental or medical factors, such as alcohol or estrogen, may be present. However, some patients may not be aware of a familial relationship to the disease, as some carriers of the genetic mutation do not experience symptoms.
Additionally, some patients may not have any known exposure to inducing factors, and childhood-onset may indicate a familial form of the disease. Clinically, type I and type II porphyria cutanea tarda present similar symptoms, and the distinction between the two types is not essential for managing the disease. However, understanding the underlying etiology of the condition can be helpful for patient counseling and for identifying potential risk factors.
In order to differentiate between type I and type II PCT, a detailed medical history from patients, including information about any potential susceptibility factors such as alcohol consumption, smoking, exposure to chemicals, and use of estrogen-containing medications, should be obtained. Evidence of neurovisceral symptoms can also help distinguish PCT from other types of porphyria.
A family history of the disease is typically not informative, but a thorough medication history can help rule out drug-induced eruptions. Photosensitivity causes skin damage when exposed to the sun, resulting in blisters, vesicles, and bullae on areas such as the hands, forearms, neck, face, and feet. This can lead to scarring and small bumps filled with keratin on the affected areas. It is often not immediately apparent that sun exposure is causing these skin issues, as the symptoms may not appear until later.
Physical Examination
PCT is characterized by the formation of vesicles, skin blisters, bullae, and augmented fragility of the skin, which can later resolve and leave behind hyper- and hypopigmented scars, milia (small yellowish-white keratin-filled papules), and contractures mimicking the skin findings of scleroderma, leading to the mislabeling of this phenomenon as pseudoscleroderma.
Scarring alopecia on the scalp can cause diffuse hair loss, and pigment changes ranging from blue to purplish brown can be seen in the facial, orbital, or orbital malar regions. An erythematous suffusion similar to polycythemia vera can also appear on sun-exposed areas. A non-virilizing type of hypertrichosis around the temple, cheeks, and forearms is seen in women.
This is sometimes the only physical manifestation in patients. PCT is a delayed blistering photosensitivity, meaning that patients may not associate sun exposure with their skin lesions, which arise from minor trauma and can sometimes get infected and cause intense pain and inflammation.
Differential Diagnoses
Bullous Disease of Dialysis
Congenital Erythopoietic Porphyria
Epidermolysis bullosa acquisita
Hereditary corporphyria
Hydroa Vacciniforme
Polymorphous light eruption
Variegate Porphyria
The management of porphyria cutanea tarda (PCT) begins with avoiding triggers and risk factors that can worsen the condition. The most significant of these is exposure to sunlight, as the wavelengths that activate porphyrins are within the 400-410 nm range. To minimize sun exposure, it is recommended to use titanium dioxide or zinc oxide-containing sunscreens and protective clothing.
Additionally, keeping affected skin areas clean and hygienic can help prevent skin infections and relieve associated pain with oral pain relievers. Other lifestyle changes to be avoided include alcohol consumption, smoking, estrogen therapy, and excessive iron intake. The most commonly used treatments for PCT are phlebotomy and hydroxychloroquine.
The choice between these treatments depends on the individual’s medical history and risk factors. Iron chelation therapy, which involves removing excess iron from the body, was once considered an option for patients with iron overload-induced PCT. However, recent research suggests that phlebotomy and hydroxychloroquine are more effective. However, deferoxamine or deferasirox may be considered alternative options for individuals unable to tolerate these treatments.
Porphyrias are a group of metabolic disorders caused by defects or changes in enzymes involved in the heme biosynthesis pathway. These disorders can present with symptoms affecting the nerves and muscles (neurovisceral symptoms), the skin (cutaneous symptoms), or a combination of both.
One of the most common forms of porphyria is Porphyria Cutanea Tarda (PCT), which is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD). This deficiency results in the accumulation of certain compounds in the liver and their eventual appearance in the blood and urine.
PCT is characterized by photosensitivity, and it is typically caused by a heterozygous mutation in the UROD gene. On the other hand, Hepatoerythropoietic Porphyria (HEP) is a rare form of porphyria that is similar to PCT in terms of symptoms, occurring due to a homozygous mutation in the UROD genes.
Porphyria cutanea tarda is a type of porphyria that primarily affects the skin. It has an estimated prevalence of 1 per 100,000 individuals. According to a study conducted in Norway, the prevalence of PCT is estimated to be around 1 in 10,000 individuals. This condition is more likely to occur in middle-aged adults and its onset is generally gradual.
In the United States, the prevalence is reported to be lower, with an estimated 1 in 25,000 individuals. It is important to note that the actual prevalence of may vary based on geographical location and population characteristics. Though, it is thought to be related to a deficiency in the enzyme uroporphyrinogen decarboxylase, which leads to the accumulation of porphyrins in the skin.
It affects individuals of both genders equally. However, certain predisposing factors may influence the likelihood of developing PCT in males or females. For instance, women who use estrogen-based products may have an increased risk of developing PCT. At the same time, men who consume alcohol and are infected with the hepatitis C virus (HCV) are also more susceptible to this condition.
Porphyria cutanea tarda is characterized by the deficiency of the enzyme uroporphyrinogen decarboxylase. This deficiency results in an accumulation of porphyrins, naturally occurring compounds in the body. The excess porphyrins enter the bloodstream and can interact with external sources of light, particularly blue light with a wavelength of 410 nm.
This interaction energizes the porphyrin molecules, releasing energy when returning to their original state. This energy is transmitted to molecular oxygen, creating singlet-excited oxygen, which can cause oxidative damage to essential biological compounds such as lipids, proteins, and cell membranes.
This oxidative damage eventually lead to cell death and result in blister formation and skin fragility, a hallmark of PCT. The activation of the complement system causes mast cells to release their contents and increase the amount of TGF-β, contributing to tissue hardening.
The etiology of porphyria cutanea tarda is not fully understood, but it is thought to be related to a combination of genetic and environmental factors. The most important genetic factor is the enzyme uroporphyrinogen decarboxylase deficiency. The UROD gene mutations are inherited in an autosomal dominant fashion and are found in 80-90% of patients with PCT.
Environmental factors such as excessive alcohol consumption, iron overload, and viral hepatitis increase the risk of PCT by causing liver damage. Alcohol can induce the accumulation of iron in the liver and inhibit the activity of UROD, which leads to increased production of porphyrins. Iron overload also increases the risk by leading to oxidative stress and inflammation in the liver.
Viral hepatitis infections, particularly hepatitis C, are associated with an increased risk of PCT, causing liver damage and leading to a deficiency in UROD. Some medications, such as estrogens, androgens, chloroquine, and other drugs, can also increase the risk of PCT by inhibiting the activity of UROD. Additionally, exposure to environmental toxins such as polychlorinated biphenyls and dioxins may also increase the risk of PCT.
The prognosis of porphyria cutanea tarda varies depending on the condition’s severity and any underlying medical conditions. In general, PCT is a chronic condition characterized by episodes of symptoms, which may be triggered by environmental factors such as alcohol consumption and iron overload. With appropriate treatment, most patients with PCT can manage their symptoms and maintain a good quality of life.
The mainstay treatment for PCT is phlebotomy which is used to reduce iron overload and help lower porphyrin levels. This treatment effectively controls disease symptoms and prevents further liver damage. In cases where liver damage has already occurred, liver transplantation may be considered a treatment option. Patients with PCT should also avoid alcohol and medications that can worsen their condition.
Clinical History
The most common signs of porphyria cutanea tarda include fragile and blistering skin on the hands, forearms, and face and discolored urine. Exposure to sunlight can worsen the symptoms, and a history of exposure to certain environmental or medical factors, such as alcohol or estrogen, may be present. However, some patients may not be aware of a familial relationship to the disease, as some carriers of the genetic mutation do not experience symptoms.
Additionally, some patients may not have any known exposure to inducing factors, and childhood-onset may indicate a familial form of the disease. Clinically, type I and type II porphyria cutanea tarda present similar symptoms, and the distinction between the two types is not essential for managing the disease. However, understanding the underlying etiology of the condition can be helpful for patient counseling and for identifying potential risk factors.
In order to differentiate between type I and type II PCT, a detailed medical history from patients, including information about any potential susceptibility factors such as alcohol consumption, smoking, exposure to chemicals, and use of estrogen-containing medications, should be obtained. Evidence of neurovisceral symptoms can also help distinguish PCT from other types of porphyria.
A family history of the disease is typically not informative, but a thorough medication history can help rule out drug-induced eruptions. Photosensitivity causes skin damage when exposed to the sun, resulting in blisters, vesicles, and bullae on areas such as the hands, forearms, neck, face, and feet. This can lead to scarring and small bumps filled with keratin on the affected areas. It is often not immediately apparent that sun exposure is causing these skin issues, as the symptoms may not appear until later.
Physical Examination
PCT is characterized by the formation of vesicles, skin blisters, bullae, and augmented fragility of the skin, which can later resolve and leave behind hyper- and hypopigmented scars, milia (small yellowish-white keratin-filled papules), and contractures mimicking the skin findings of scleroderma, leading to the mislabeling of this phenomenon as pseudoscleroderma.
Scarring alopecia on the scalp can cause diffuse hair loss, and pigment changes ranging from blue to purplish brown can be seen in the facial, orbital, or orbital malar regions. An erythematous suffusion similar to polycythemia vera can also appear on sun-exposed areas. A non-virilizing type of hypertrichosis around the temple, cheeks, and forearms is seen in women.
This is sometimes the only physical manifestation in patients. PCT is a delayed blistering photosensitivity, meaning that patients may not associate sun exposure with their skin lesions, which arise from minor trauma and can sometimes get infected and cause intense pain and inflammation.
Differential Diagnoses
Bullous Disease of Dialysis
Congenital Erythopoietic Porphyria
Epidermolysis bullosa acquisita
Hereditary corporphyria
Hydroa Vacciniforme
Polymorphous light eruption
Variegate Porphyria
The management of porphyria cutanea tarda (PCT) begins with avoiding triggers and risk factors that can worsen the condition. The most significant of these is exposure to sunlight, as the wavelengths that activate porphyrins are within the 400-410 nm range. To minimize sun exposure, it is recommended to use titanium dioxide or zinc oxide-containing sunscreens and protective clothing.
Additionally, keeping affected skin areas clean and hygienic can help prevent skin infections and relieve associated pain with oral pain relievers. Other lifestyle changes to be avoided include alcohol consumption, smoking, estrogen therapy, and excessive iron intake. The most commonly used treatments for PCT are phlebotomy and hydroxychloroquine.
The choice between these treatments depends on the individual’s medical history and risk factors. Iron chelation therapy, which involves removing excess iron from the body, was once considered an option for patients with iron overload-induced PCT. However, recent research suggests that phlebotomy and hydroxychloroquine are more effective. However, deferoxamine or deferasirox may be considered alternative options for individuals unable to tolerate these treatments.
https://www.ncbi.nlm.nih.gov/books/NBK563209/
Free CME credits
Both our subscription plans include Free CME/CPD AMA PRA Category 1 credits.
Digital Certificate PDF
On course completion, you will receive a full-sized presentation quality digital certificate.
medtigo Simulation
A dynamic medical simulation platform designed to train healthcare professionals and students to effectively run code situations through an immersive hands-on experience in a live, interactive 3D environment.
medtigo Points
medtigo points is our unique point redemption system created to award users for interacting on our site. These points can be redeemed for special discounts on the medtigo marketplace as well as towards the membership cost itself.
Community Forum post/reply = 5 points
*Redemption of points can occur only through the medtigo marketplace, courses, or simulation system. Money will not be credited to your bank account. 10 points = $1.
All Your Certificates in One Place
When you have your licenses, certificates and CMEs in one place, it's easier to track your career growth. You can easily share these with hospitals as well, using your medtigo app.
