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Porphyria / p ɔːr ˈ f ɪr i ə / is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. [1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. [1]
Porphyria cutanea tarda is the most common subtype of porphyria. [1] The disease is named because it is a porphyria that often presents with skin manifestations later in life. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs.
Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful.It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver. [2]
"Cortisol face" is a viral term to describe facial swelling, allegedly caused by high levels of cortisol. Can stress cause a puffy face? Experts weigh in and debunk the condition.
Variegate porphyria, also known by several other names, is an autosomal dominant porphyria [3] that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. The disorder results from low levels of the enzyme responsible for the seventh step in heme production.
X-linked dominant erythropoietic protoporphyria is a relatively mild version of porphyria with the predominant symptom being extreme photosensitivity causing severe itching and burning sensation of the skin due to the buildup of protoporphyrin IX. One possible treatment was discovered when treating an individual with supplemental iron for a ...
Attacks are most common in young adult women and are rare before puberty or after menopause. [8] Severe acute attacks may require hospitalization. Patients usually experience symptoms in attacks that last from several hours to a few days. Between attacks, patients are asymptomatic. [citation needed]
Periorbital puffiness, also known as puffy eyes, or swelling around the eyes, is the appearance of swelling in the tissues around the eyes, called the orbits. It is almost exclusively caused by fluid buildup around the eyes, or periorbital edema. Minor puffiness usually detectable below the eyes only is often called eye bags.