Porphyria is a severe hereditary disease characterized by a violation of porphyrin metabolism, which leads to an increase in the concentration of porphyrins and their derivatives.
classification
Porphyria species are classified based on the localization of the main sites of hemoglobin production, in which a metabolic disorder may occur.
Thus, distinguish:
Erotropoetic group of porphyries:
o Congenital porphyria – Gunther’s disease
o Erythropoietic porphyria
Group of hepatic porphyria:
o Acute intermittent
o Porphyria as a result of aminolevulinic acid deficiency
o Late cutaneous
o Hereditary
o Variegate
reasons
In the development of the cutaneous form of porphyria, an important role is played by the effect on the body of certain substances, including heavy metal salts, gasoline, alcohol abuse.
Other reasons are the abuse of medications, in particular, estrogen preparations, barbiturates, the development of severe and lightning–fast forms of hepatitis.
Most often, porphyria develops in males, due to their greater susceptibility to bad habits.
symptoms
Porphyria is a rather specific disease in its clinical picture. The disease most often manifests itself in spring or summer, when solar radiation is most pronounced.
First of all, dermatosis develops in open areas of the body that are most exposed to sunlight. Dermatosis manifests itself in the form of the development of pathological elements – pigment spots, blisters, bullae (blisters). The sensitivity of the skin also increases, it becomes very vulnerable. Some patients have hypertrichosis, microcysts.
The resulting bubbles have a rounded or slightly elongated shape and reach a diameter of up to 20 cm . Bullae contain a yellowish liquid, often the exudate has a serous character – this happens when a secondary infection is attached. Bubbles do not tend to merge. The skin around the blisters remains unchanged.
The bubbles are tense, with slight injury they burst, exposing large erosive surfaces. After healing, bluish scars form on the site of ulcers, pigmentation is enhanced, acne (milium) often develops.
The nail plates are also subject to change (with a late cutaneous form). Nail plates thicken, hyperkeratosis develops, nails are destroyed.
Porphyria can occur benign or with the development of dystrophic processes. Simple (benign) porphyria lasts a short time, especially if it develops in the summer. Ulcers and erosions heal quickly. Relapses occur no more than once a year, the patient’s condition is relatively mild or moderate.
Dystrophic porphyria is more severe. The disease can begin in the spring and end in late autumn. Blisters and other pathological changes persist for a long time, heal for a long time, rough scars form in their place. In most cases, this form of porphyria is complicated by the addition of a secondary infection, which significantly worsens the patient’s condition, increases the complex of procedures and measures aimed at stopping the process.
Rarely, patients develop an atypical form of porphyria – erosive cheilitis. At the same time, the lip border is affected, peeling and erosion appear.
treatment
There is no specific treatment for porphyria. All medical measures are aimed at relieving symptoms and preventing the development of complications. Patients are prescribed vitamin therapy (B vitamins, nicotinic acid). Some experts claim the effectiveness of anti-schizophrenic drugs, antioxidants.
In severe clinical forms, prednisone is prescribed.
Since the deterioration of the condition can occur under the influence of sunlight, the patient’s skin must be protected with special creams.
