Cutaneous porphyria is due to overproduction of photosensitizing porphy rins by the liver or bone marrow, depending on the type of porphyria. Porphyrias are monogenic and autosomal genetic conditions and each is linked to a deficiency of haem metabolising enzymes. Cutaneous porphyria clinical notes neurologic porphyria clinical notes protoporphyria pp seen in adolescents acute intermittent porphyria aip 80% of neurologic porphyrias porphyria cutanea tarda pct 90% most common of cutaneous porphyrias. Modern diagnosis and management of the porphyrias uw. Pathogenesis of photosensitivity in the cutaneous porphyrias.
Additionally, venesection to deplete excess iron stores, oral chloroquine to increase urinary porphyrin excretion, and avoidance of alcohol and oestrogens are all particularly helpful in porphyria cutanea tarda. All porphyrias are characterized by the accumulation of porphyrin, or intermediates of its biosynthesis, which can cause a variety of symptoms depending on the organs involved e. When your skin heals after cutaneous porphyria, it may have an abnormal appearance and coloring, be fragile, or leave scars. Management of porphyria cutanea tarda porphyria for. Porphyria cutanea tarda is the most common porphyria in the usa, accounting for 8090% of all porphyrias, with an estimated prevalence of 1 in 25,000. Porphyria cutanea tarda pct is the most common form of porphyria worldwide. The erythropoietic cutaneous porphyrias, congenital erythropoietic porphyria cep and epp, and its recently recognized xlinked form, xlp, are characterized by elevations of porphyrins in.
Porphyrias are a group of inherited or rarely acquired metabolic disorders in which defective enzymes impair the biosynthesis of heme in the liver andor bone marrow. Dyck mayo clinic, department of neurology, rochester, mn, usa introduction porphyrias are rare disorders of heme metabolism, each characterized by a defect in an enzyme required for the synthesis of heme. The clinical features of an acute attack vary greatly. Therapeutic phlebotomy is the removal of about a pint of blood from a vein in the. Porphyria genetic and rare diseases information center.
A health care provider treats porphyria cutanea tarda by removing factors that tend to activate the disease and by performing. The suprabasal vesicles of porphyria cutanea tardae, the most common subtype, typically present later in life and are most often elicited by infection or hepatotoxin exposure. Porphyria and vampirisma myth, sensationalized dermatology. The skin disease of porphyria cutanea tarda read porphyria cutanea tarda is similar to that of variegate porphyria, and in milder cases the two cannot be distinguished clinically. The disorder results from low levels of the enzyme responsible for the fifth step in heme production.
Acute intermittent porphyria is the acute type most often encountered in clinical practice. The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic. Porphyria cutanea tarda pct is the most common type of all the porphyrias. The cutaneous porphyrias porphyria cutanea tarda pct, hepatoerythropoietic porphyria hep, congenital erythropoietic porphyria cep, erythropoietic protoporphyria epp, and xlinked. Porphyrins produce free radicals when exposed to ultravi olet light 400 nm. Since gunthers1 clinical study of the nowfamous case of petry, a congenital porphyric erythropoietica of watson2, and hans fischers3 biochemical investigation of this patient in 1915, the term porphyria has grown to embrace a group of deceptively different, yet similar, syndromes. The porphyrias affecting the skin can be divided into 1 those that present mainly with visible lightexposed site bullae and fragility most commonly porphyria cutanea tarda pct, 2 those, particularly erythropoietic protoporphyria epp, that present with neuropathictype pain, oedema, erythema, and lesions on exposed sites acute phototoxic. Uct lennox eales porphyria labs kfloor old main building groote schuur hospital observatory 7925 telephone. An increase in porphyrins in the skin result in photosensitivity, ie, the skin is damaged by light. Oct 30, 2017 this is an overview of the cutaneous porphyrias. The cutaneous porphyrias porphyria cutanea tarda pct, hepatoerythropoietic porphyria hep, congenital erythropoietic porphyria cep, erythropoietic protoporphyria epp, and xlinked protoporphyria xlp, present with blistering and scarring of the skin, pain, andor redness and swelling in sunexposed areas. Pdf this is an overview of the cutaneous porphyrias. Accumulation of free protoporphyrin in skin, liver and bone marrow results in acute. In contrast, acute hepatic porphyrias are characterised by neurological symptoms.
Pdf an overview of the cutaneous porphyrias researchgate. This is due to the fact that the defective enzymes in these two types of porphyria, ala. Since cutaneous porphyria symptoms start when your skin is in sunlight, staying out of the sun will heal your skin and help prevent permanent damage. Also, protecting the hands from trauma during manual work and leisure activities. Cutaneous porphyria clinical notes neurologic porphyria clinical notes protoporphyria pp seen in adolescents acute. Diagnosis of porphyria porphyria for professionals. Broadly speaking, the different porphyrias can be grouped into 3 categories when testing is being. Porphyria cutanea tarda pct is the most common type of porphyria. Cutaneous porphyrias contt hepatoerythropoietic porphyria hep homozygous form of familial pct upto 90% decrease in urod activity severe disease similar to cep pain,blisters. A heterozygous urod mutation predisposes to pct in approximately 20 percent. Cutaneous porphyrias can result in permanent skin damage. Skin manifestations restricted to sunexposed areas symptoms. Skin symptoms suggestive of photosensitivity are indeed sufficient reason to have a patient tested for porphyria, as are are symptoms suggestive of the acute attack. Nov 29, 2012 the erythropoietic cutaneous porphyrias, congenital erythropoietic porphyria cep and epp, and its recently recognized xlinked form, xlp, are characterized by elevations of porphyrins in bone marrow and erythrocytes and usually present with cutaneous photosensitivity in infancy or early childhood, 1,8 or in the case of cep, even in utero as.
Cutaneous porphyrias include forms of the disease that cause skin symptoms as a result of sensitivity to sunlight, but these forms dont usually affect your nervous system. A 2015 update article pdf available in gastroenterologie clinique et biologique 394 july 2015 with 3,198 reads. Cutaneous porphyrias result from deficiency and in one case, excess of certain enzymes in the heme biosynthetic pathway see table substrates and enzymes of the heme biosynthetic pathway, resulting in a relatively steady production of phototoxic porphyrins in the liver or bone marrow. The porphyrias are a rare group of metabolic disorders that can either be inherited or acquired. The porphyrias are metabolic disorders caused by altered activities of enzymes within the heme biosynthetic pathway. The second most common form, acute intermittent porphyria. The porphyrias are a heterogeneous group of metabolic disorders arising from defects in the haem biosynthetic pathway. Free erythrocyte protoporphyria fep 010165 porphyria cutanea tarda pct. People affected by this condition generally experience photosensitivity, which causes painful, blistering. Porphyrias knowledge for medical students and physicians. Skin in these areas may also be particularly fragile with blistering andor peeling after minor trauma. Along the heme biosynthetic pathway, porphyrias can manifest with neurovisceral andor. In cutaneous porphyria, the timeframe, cause, and severity are often misunderstood.
Collection of pictures, photos and images of porphyria cutanea tarda treatment. Erythropoietic protoporphyria is diagnosed or excluded by measuring erythrocyte free protoporphyrin. In some cases of porphyria cutanea tarda the skin disease is more severe, with large, ugly blisters and open sores on the hands and face, darkening and coarsening. Acute intermittent porphyria is the commonest of the acute porphyrias. Betacarotene is a pigment found in various green and yellow fruits and vegetables and can decrease the severity of photosensitivity reactions in patients with porphyria. Porphyrias can cause neurovisceral manifestations eg, abdominal pain, motor and sensory peripheral neuropathy, neuropsychiatric changes andor cutaneous photosensitivity either chronic and blistering or acute and mostly nonblistering.
Although porphyria cutanea tarda is the one that is most treatable at this time there is no known cure for it. Hereditary porphyrias are a group of eight metabolic disorders of the haem biosynthesis pathway that are characterised by acute neurovisceral symptoms, skin lesions, or both. Porphyria cutanea tarda pictures, diagnosis, causes. Dyck mayo clinic, department of neurology, rochester, mn, usa introduction porphyrias are rare disorders of heme. Overview of cutaneous porphyrias endocrine and metabolic. Broadly speaking, the different porphyrias can be grouped into 3 categories when testing is being considered. Skin disease in porphyria porphyria for professionals. Edema suninduced erythema acute painful photodermatitis urticaria ppfe protoporphyrins, fractionation, whole blood normal increased zinc protoporphyrin increased free. The cutaneous porphyrias are treated by avoidance of sunlight and attention to skin care. The autosomal dominant acute porphyrias are low penetrant, disorders that. This causes the generation of free radicals and, thereby, photosensitivity of all tissues exposed to light. Therefore, testing must be tailored to the presenting symptoms and the type of porphyria suspected. Investigation of cutaneous porphyria investigation of. Each porphyria is characterised by a specific partial enzyme deficiency fig 1.
The most common symptom is severe abdominal pain, which may be accompanied by neurological and psychiatric symptoms fig fig2 2. Each of the eight enzymes involved in porphyrin synthesis can be defective and can produce a distinctive form of porphyria. Aug 22, 2015 cutaneous porphyrias contt hepatoerythropoietic porphyria hep homozygous form of familial pct upto 90% decrease in urod activity severe disease similar to cep pain,blisters, scarring on exposure to sun in infancy hypertrichosis, flourescent teeth, eye involvement, shortened distal phalynges dark urine increased urinary uroporphyrins and. Ala and pbg, are associated with neurological symptoms of acute hepatic porphyrias. Porphyria cutanea tarda pct is a form of porphyria that primarily affects the skin. The diagnosis of porphyria can be obscure and the symptoms severe. It is a chronic medical condition so the most effective treatment is managing the medical condition and will often. Although these features may also occur on the face and neck as well, it is. Acute intermittent porphyria is the acute type most. Bear in mind however that appropriate diagnostic laboratory tests must be regarded as more sensitive and specificthan the clinical history alone. Porphyria is a predominantly inherited metabolic disorder, resulting from a deficiency of an enzyme in the heme production pathway, and overproduction of toxic heme precursors. When your skin heals after cutaneous porphyria, it may have an abnormal appearance and coloring, be. Vp and 520% of patients with hcp have cutaneous symptoms.
Porphyrias can cause neurovisceral manifestations eg, abdominal. Cutaneous porphyrias are characterised by specific cutaneous lesions in zones exposed to sunlight photodermatosis. Mar 08, 2016 porphyria cutanea tarda pct is a form of porphyria that primarily affects the skin. The acute porphyrias variegate porphyria vp and hereditary coproporphyria hcp also have cutaneous manifestations. Both erythropoietic porphyria and chronic hepatic porphyria accompany cutaneous photosensitivity, but they are not associated with neurological symptoms. Oct 30, 2017 an overview of the cutaneous porphyrias. If you have a form of acute porphyria, a urine test may reveal elevated levels of two substances.
Nov 18, 2017 porphyria is considered a chronic illness, as the underlying cause cant be cured. The porphyrias affecting the skin can be divided into 1 those that present mainly with visible lightexposed site bullae and fragility most commonly. Variegate porphyria is found worldwide but has an exceptionally high frequency in south africa. Porphyria cutanea tarda pct or cutaneous hepatic porphyria 15. As a result, skin damage ensues in the lightexposed areas, resulting in cutaneous. Porphyria cutaneous testing algorithm mayo clinic laboratories. Diagnosis of the porphyrias home rare diseases clinical. Both erythropoietic porphyria and chronic hepatic porphyria accompany cutaneous photosensitivity, but they are not associated with. The disease is named because it is a porphyria that often presents with skin manifestations later in life. Porphyria cutanea tarda pct is the most common form and presents with chronic, blistering cutaneous photosensitivity and teacolored urine. If you have signs and symptoms of porphyria, youre likely to start by seeing your primary care provider. Porphyria cutanea tarda pct, the only chronic hepatic porphyria, has a. Individuals with pct present with increasingly fragile skin on the back of the hands and the forearms. The second most common form, acute intermittent porphyria aip, is characterized by lifethreatening attacks of severe abdominal pain, constipation, tachycardia, and neuropsychiatric abnormalities.
The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and last a short time. As a result, skin damage ensues in the lightexposed areas, resulting in cutaneous porphyrias. In the liver, free heme regulates the synthesis and mitochondrial translocation of the. Although theres no way to prevent porphyria, if you have the disease, avoid triggers to help prevent. The most notable exception is the most common of the porphyrias, porphyria cutanea tarda pct, which is caused by acquired inhibition of uroporphyrinogen decarboxylase urod, the fifth enzyme in the pathway, specifically in the liver. Nov 12, 2019 oral photoprotection can be achieved with free radical scavengers, thereby reducing free radicals, singlet oxygen formation, and the photosensitizing effect of porphyrins. Porphyria cutanea tarda is the most common subtype of porphyria. Firstline testing is different for acute porphyrias, blistering cutaneous or nonblistering cutaneous porphyria. Porphyria cutanea tarda pictures, diagnosis, causes, treatment. However, porphyria usually can be managed by treatment and lifestyle changes so that you can live a full and healthy life. These porphyrins accumulate in the skin and, on sunlight. Porphyria and its neurologic manifestations jennifer a. A health care provider treats porphyria cutanea tarda by removing factors that tend to activate the disease and by performing repeated therapeutic phlebotomies to reduce iron in the liver. Interpretive report provided for all tests in this algorithm.