Angiokeratoma
The content of the article:
- Causes and risk factors
- Forms of the disease
- Symptoms
- Diagnostics
- Treatment
- Possible complications and consequences
- Forecast
Angiokeratoma is a dermatosis, represented by single or multiple benign vascular neoplasms such as angiomas, combined with pathological thickening of the stratum corneum.
Angiokeratomas mean similar pathological conditions that differ in the specificity of the clinical picture and the prevalence of the process. At the same time, skin manifestations vary from single, minor point formations to diffuse, diffuse changes in the epidermis.
Red nodules - a sign of angiokeratoma
Causes and risk factors
The most common cause of angiokeratomas is hereditary mutations at the gene level, leading to the appearance of defective chromosomes. As a rule, angiokeratoma is inherited recessively, in conjunction with the X chromosome.
Less often, the appearance of neoplasms provokes skin injuries of various nature and intensity, local blood flow disturbances, hormonal movements. Also, angiokeratomas can appear in some diseases and syndromes (with Klippel-Trenone-Weber syndrome, cavernous hemangioma, systemic vascular malformations, hereditary storage diseases, etc.).
Forms of the disease
There are 5 clinical forms of angiokeratomas:
- Limited angiokeratoma.
- Nonvoid limited angiokeratoma of the fingers of Mibelli (angiokeratoma of Mibelli).
- Angiokeratoma of the scrotum (less often of the vulva) (Fordyce's disease).
- Solitary papular angiokeratoma.
- Diffuse torso angiokeratoma (diffuse Fabry torso angiokeratoma).
Symptoms
The manifestations of the disease in various forms are similar:
- nodules from pink or red to bluish-burgundy, with a diameter of 1 to 5 mm (rarely up to 1 cm), often with a warty surface;
- location of neoplasms in groups against the background of unchanged skin;
- irregularly shaped nodules;
- elevation of neoplasms above the skin level;
- the tendency of nodules to increase;
- histologically determined expansion of skin capillaries.
Nevertheless, for each type of angiokeratoma, specific characteristic features have been identified.
So, a limited form, as a rule, is localized on the skin of the lower extremities (thighs, legs, feet), much less often on the arms or trunk. Vascular nodules are unevenly located, do not have a clear shape, bleed easily in case of accidental injury. The majority of researchers point to the malformation of embryonic development as the leading cause of this disease.
Nonvoid limited angiokeratoma Mibelli often affects females, is a hereditary pathology transmitted in conjunction with the X chromosome. The onset of the disease occurs at the age of 10–15 years and is manifested by small dotted spider veins on the fingers and toes. As the progression progresses, skin neoplasms acquire a rich pink-red color, increase in size (up to 5 mm), and rise above the skin level. The surface of the nodules is keratinized. The course of the disease is sluggish, chronic, worsening in the autumn-winter period. Rarely, spontaneous resolution of the rash is noted. When traumatized, Mibelli's angiokeratomas are prone to ulceration.
Mibelli nonvoid limited angiokeratoma
Solitary papular angiokeratoma is a complication of a limited form of angiokeratoma, which appears as a result of trauma to the latter. After a traumatic effect, a limited neoplasm begins to progress sharply, reaches a significant size (up to 10 mm), and acquires a purple-cyanotic hue. The surface of the nodule is covered with a warty, coarse-grained striation. Outwardly, the tumor resembles a blackberry. Often, a brownish rim is observed around papular angiokeratoma.
Angiokeratoma of the scrotum or vulva is characterized by a benign course. It is also considered an intrauterine malformation. Usually the disease manifests itself in middle age, men get sick much more often than women. Neoplasms in this case are small, multiple, scattered over the surface of the skin of the scrotum and penis in men, labia majora and thighs in women. Angiokeratomas do not affect the quality of life of patients.
Scrotal angiokeratoma - Fordyce's disease
Diffuse Fabry torso angiokeratoma is a cutaneous manifestation of a rare systemic genetic disease (hereditary dystopic lipoidosis, or glycosphingolipidosis, or peramidtrihexosidosis) caused by the absence or decrease in the activity of the lysosomal enzyme that is involved in sphingolipid catabolism.
The disease, usually diagnosed in men, usually leads to death before the age of 40-50. In childhood or adolescence, small dark red soft nodules appear on unchanged skin. They can be located on any part of the body: more often on the abdomen, thighs, buttocks, lips, cheeks, fingertips, on the scrotum, in the armpits and popliteal fossa; can also occur in the oral cavity, at the border of the hard and soft palate.
The malignancy of the course in diffuse angiokeratoma is determined by the involvement of many systems and organs in the pathological process (central, peripheral nervous system, urinary, respiratory systems, gastrointestinal tract, organs of hearing and vision), when skin symptoms are only an external manifestation of a severe systemic disease, accompanied by:
- excruciating, burning pains, tingling, numbness in the palms and soles of the feet, extending to the entire limb;
- decrease or complete cessation of sweating, the formation of saliva and lacrimal fluid;
- high risk of developing strokes and transient disorders of cerebral circulation;
- tinnitus, headache, dizziness;
- renal failure;
- pain in the heart, changes in the frequency and rhythm of heart contractions, blood pressure, the formation of heart defects;
- cataract and retinal vascular damage (loss of vision is possible);
- hearing impairment;
- anorexia, pain in the epigastrium and umbilical region, bloody vomiting, damage to the pancreas, large and small intestines;
- airway obstruction;
- delayed sexual development;
- anomalies in the development of muscles and bone skeleton;
- lesions of other organs of a different nature.
In rare cases, Fabry angiokeratoma is described as an independent skin disease without concomitant systemic pathologies.
Diagnostics
The basis for the correct diagnosis of angiokeratomas is an objective examination of the patient.
To confirm Fabry angiokeratoma, the following laboratory and instrumental studies are necessary:
- biochemical blood test with crystallization of the extract of total lipids and their study in polarized light;
- DNA diagnostics for detecting mutations in the GLA gene;
- histological examination (thinning and hyperkeratosis of the epidermis, the presence of lacunar dilated vascular cavities with a capillary structure of the walls, intraepidermal "blood cysts", acanthosis);
- histochemical study (for deposits of phospholipids and ceramidetrihexoside in skin structures);
- determination of the activity of the enzyme alpha-galactosidase in plasma, leukocytes, serum, lacrimal fluid, in any biopsy specimen or culture of skin fibroblast cells;
- ophthalmoscopy (dilatation of the conjunctival veins, areas of corneal opacity, expansion, possibly microaneurysms, and deformation of the retinal vessels, plethora of the optic discs are detected).
DNA diagnostics can detect mutations in the GLA gene
Treatment
Treatment with angiokeratomas is radical, pharmacotherapy in this case is ineffective:
- surgical excision;
- removal with liquid nitrogen;
- argon laser removal;
- dermatocoagulation.
For the treatment of diffuse angiokeratoma, both surgical and therapeutic methods are used:
- diet;
- prompt removal of skin defects;
- anticonvulsants;
- analgesics (non-steroidal drugs or opiates);
- dialysis or kidney transplantation (with the development of renal failure);
- cardiac drugs (on demand);
- enzyme replacement therapy;
- gene therapy;
- pharmacological chaperones.
Possible complications and consequences
The main complication is bleeding or ulceration of the injured angiokeratoma.
Angiokeratoma Fabry is most often complicated by the following conditions:
- renal failure;
- life-threatening heart rhythm disturbances;
- myocardial infarction;
- acute violation of cerebral circulation.
Forecast
The prognosis is favorable in all cases, except for Fabry angiokeratoma, which is characterized by a high incidence of patient disability and mortality at a young age. In recent years, the prognosis for patients with diffuse torso angiokeratoma has slightly improved due to the use of hemodialysis, the possibility of kidney transplantation, and the use of innovative therapeutic techniques.
Olesya Smolnyakova Therapy, clinical pharmacology and pharmacotherapy About the author
Education: higher, 2004 (GOU VPO "Kursk State Medical University"), specialty "General Medicine", qualification "Doctor". 2008-2012 - Postgraduate student of the Department of Clinical Pharmacology, KSMU, Candidate of Medical Sciences (2013, specialty "Pharmacology, Clinical Pharmacology"). 2014-2015 - professional retraining, specialty "Management in education", FSBEI HPE "KSU".
The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!
