Best's Disease - a form of two-way central (macular) retinal pigment abiotrophy leading to the degeneration of photoreceptors and macular significant vision loss. Characterized initially asymptomatic, eventually falls visual acuity, central scotoma occurs. Diagnosis is made on the basis of examination of the fundus, data electrooculography and fluorescein angiography of retinal vessels, genetic research. No specific treatment of the disease Besta does not exist, use supportive treatment to slow the progression of disease manifestations.
Ankylosing spondylitis (international name - ankylosing spondylitis). Inflammatory changes in the intervertebral joints cause their fusion (ankylosis). Range of motion in the joints gradually limited to, the spine becomes fixed. The first manifestations of the disease in the form of pain and stiffness first appear in the lumbar spine and then spread up through the spinal column. Over time, forming typical ankylosing spondylitis pathological thoracic kyphosis. In Russia, ankylosing spondylitis diagnosed in 0.3% of the population. The disease most often affects men aged 15 to 30 years. Women suffer 9 times less often than men.
Behcet's disease - a disease of the group of systemic vasculitis with a lesion of the small and medium-sized arteries and veins, recurrent erosive ulcerations of the mouth, genitals, eyes, skin, the involvement of internal organs and joints. Manifestations of Behcet's disease are varied and can include canker sores, ulcers, genital, cutaneous and subcutaneous erythema nodosum, uveitis, arthritis, vasculitis, pulmonary dysfunction, kidney, stomach, meningoencephalitis. Behcet disease diagnostics based on the clinical and laboratory data; Treatment includes local and systemic immunosuppressive therapy. Behcet's disease occurs with periods of relapse and remission time, complications on the part of the authorities concerned.
Binswanger's Disease - subcortical encephalopathy, a progressive loss of white matter of the brain. In the majority of cases is caused by hypertension, rarely provoked by amyloid angiopathy and genetically determined SADASIL angiopathy. Manifested disorders of thinking and cognitive activity, progressive dementia, impaired walking and disorders of pelvic organs. In the later stages, patients are completely helpless and in need of constant care. Treatment - symptomatic and pathogenetic therapy of the underlying disease, correction of neurological and psychiatric disorders.
Bowen's disease - intraepidermal neoplasm skin and mucous membranes, which may progress to invasive cancer. It is a bright red plaque with irregular contours, pronounced desquamation, hyperkeratosis, warty growths. Pathological lesions may be located on the head, limbs, genitals. Diagnosis Bowen's disease is carried out by visual examination and dermoscopy, a biopsy confirmed the results of a neoplasm. In the treatment of Bowen's disease applied cryosurgery, electrocoagulation, radiotherapy, surgical excision of the hearth.
Von Willebrand disease - congenital disorders of hemostasis, which manifests itself quantitative and qualitative shortage of plasma von Willebrand factor and bleeding disorders. Von Willebrand disease is characterized by the spontaneous formation of subcutaneous petechiae, ecchymosis; recurrent bleeding from the nose, stomach, uterus; excessive blood loss after injuries and operations, hemarthroses. The diagnosis is established according to the family history, clinical and laboratory screening of the hemostatic system. In von Willebrand disease applied antihemophilic plasma transfusion, local and general hemostatic agent, Antifibrinolytics.
Wilson's disease - a hereditary disease transmitted in an autosomal recessive manner. Occurs under ATR7V mutations in the gene encoding the protein ATPase medtrasnportiruyuschey liver. A characteristic feature of Wilson's disease - the accumulation of copper in various organs and tissues, mainly in the liver, and the basal ganglia. Wilson's disease can occur in the abdomen, rigid-aritmogiperkineticheskoy, tremor or extrapyramidal, cortical shape. Diagnosis of Wilson's disease include eye examination, biochemical urine and blood samples, MRI or CT of the brain. The basis of the pathogenetic therapy comprise thiol drugs that can be taken for several years or even for life.
Disease Gallervordena-Spatz - a hereditary neurodegenerative pathology caused by the deposition of iron in the basal ganglia of the brain. It appears syndrome Parkinsonism, intellectual disabilities and mental sphere, hyperkinesis, visual disorders. The main diagnostic importance is the detection of figure "eye of the tiger" in the globus pallidus region during MRI of cerebral structures. Treatment is symptomatic: dopamine agonists, valproate, anticonvulsants, antipsychotics, antidepressants. Prognosis is poor.
Gamstorp disease - a form of transient muscle weakness associated with a sharp increase potassium in the blood. Gamstorp disease manifests arise with varying frequency bouts of weakness in the limbs and muscles of the face, which are accompanied by paresthesia, vegetative disorders, decreased reflexes and muscle tone without sensitivity irregularities. Gamstorp disease is diagnosed on the basis of its typical clinical picture, blood data on potassium content in pristupnaya and interictal periods. Treatment includes hypokalemic diet and receiving diuretics that promote intense potassium excretion from the body.
Von Hippel Lindau disease - autosomal dominant genetic abnormality causing the development of the body of a number of polymorphic tumors. Most often retinal angiomas, hemangioblastoma CNS, pheochromocytoma, renal and pancreatic tumors. Sometimes the manifestation of the disease appears a single tumor process. The diagnosis is verified after neurological and ophthalmological examinations of CT or MRI of the brain and spine, ultrasound or CT scan of the kidneys, pancreas, adrenal glands, genetic diagnosis. Treatment consists in the early detection and removal of emerging tumor formations.
Hirschsprung's disease - a disease that occurs as a result of congenital developmental disorders of the nerve plexus that provide innervation of the colon. The pathology is accompanied by constipation and malabsorption in the large intestine. Easy flowing Hirschsprung's disease can only manifest itself in adulthood, it is characterized by severe course neothozhdeniem meconium (original stool) of the newborn. The disease is diagnosed by endoscopy and X-ray contrast intestine. Hirschsprung's disease is treated surgically: made removal of the affected part of the intestine.
Grover's disease - a rare benign transient acantholytic dermatosis clinically characterized by dense rash of bright red papules on unmodified or slightly edematous skin. Distinctive features of the disease are itching that accompanies each "attack" papules, and their ability to resolve spontaneously. Primary cells are localized in the neck, décolleté and shoulders. Diagnose abnormalities on the basis of history, clinical data and biopsy smears. Light forms are treated with vitamins and antibiotics, externally - corticosteroid ointments. In severe cases, corticosteroids and retinoids are connected inside.
Darier's disease (follicular dyskeratosis vegetating) - a hereditary disease transmitted as an autosomal dominant trait with varying degrees of phenotypic expression of a defective gene. The basis of the clinical manifestations of pathological cornification of epidermal cells (dyskeratosis). The primary elements are small scaly spots or globe-shaped papules, crusting, coalescing into plaques. Dermatosis localized on the face, chest, back, in the interscapular region on the scalp. Connection of secondary infection. Gender division no. Treatment is symptomatic. Weather favorable for life.
De Quervain's disease (chronic tenosynovitis, stenosing tenosynovitis, stenosing ligament) - narrowing of the canal, which pass the tendons of the thumb. It is accompanied by inflammation of the tendon sheath. There is increased due to constant load on the brush, often - in connection with the performance of professional duties. Usually it develops gradually. Current chronic. For the disease characterized by pain at the base of the I toe and a small local swelling. Because of pain in patients is reduced or lost the ability to perform a series of movements involving both fingers I, and the entire brush. Diagnosis is exposed on the basis of the requirements of the patient complaints and inspection, additional studies are required. Conservative treatment provides an effect in about 50% of cases. Radical method of treatment is surgery.
Cushing's disease - neuroendocrine disorder that develops as a result of the defeat of the hypothalamic-pituitary system, hypersecretion of ACTH and Secondary hyperfunction of the adrenal cortex. Syndrome characterized by Cushing's disease, including obesity, hypertension, diabetes, osteoporosis, reduced gonadal function, dry skin, stretch marks on the body, hirsutism, and others. With the diagnostic purpose of being identified a number of biochemical parameters of blood, hormones (ACTH, cortisol 17-ACS et al.), kraniogramme, CT pituitary and adrenal glands, the adrenal scintigraphy, Liddle test. In the treatment of Cushing's disease drug therapy is used, rentgenoterpiya, surgical methods (adrenalectomy, gopfiza removal of the tumor).
Kawasaki disease - a rare Immune inflammation of various caliber arteries that occurs mainly in children during the first years of life. Kawasaki disease is manifested by fever, diffuse polymorphous rash, conjunctivitis, lesions of the mucous membrane of the mouth, skin, and joints distal extremities, cervical adenopathy. Diagnosis of Kawasaki disease is based on clinical criteria, the results of laboratory studies of blood and urine tests, ECG, ultrasound of the heart and coronary angiography. The basis of the treatment of Kawasaki disease is intravenous immunoglobulin and acetylsalicylic acid, anticoagulants used according to indications.
Calvet's disease (osteohondropatija vertebral body, platispondiliya) - a rare disease of the spine, which is based on an aseptic (non-infectious) necrosis of the body of one or two located in the spinal column vertebrae. Calve disease occurs with increasing pain in the affected vertebra necrotic process. Characteristically protrusion of the spinous process of the affected vertebra, tenderness, tension paravertebral muscles and limitation of mobility of the spine in the area. Calvet's disease is diagnosed according to X-ray, CT scan or spine MSCT. The basis of the treatment of the disease Calvet is conservative technique, surgical treatment is carried out at its inefficiency.
Canavan disease (spongy degeneration) - Genetic neurodegenerative disease, which is based on lack of enzyme aspartoatsilazy resulting in demyelination of nerve fibers of the brain. Canavan disease manifests in early childhood disorders and motor development of the child, difficulty eating, muscle hypotonia, macrocephaly, seizures, blindness. Canavan disease is diagnosed by analysis of urine N-acetyl-aspartic acid. An effective therapy of the disease is not found. An attempt is made to treat Canavan disease by means of metabolic therapy and through the use of gene technology can replace a pathological aberration to the healthy gene.
Keira disease - superficial intraepithelial carcinoma of the mucous membranes. In most cases the tumor lesion affecting the glans penis and the inner layer of the foreskin, at least - the vulva, cervix, anal area, mouth. It is a plaque bright red color with a shiny, slightly velvety, moist surface and sharp edges. For the purpose of diagnosing diseases Keira used biopsy tumors, histology and cytology. As treatments for disease Keira asked to surgical excision, electrocautery, kriodesturktsiya, chemotherapy, X-ray irradiation.
Kohler's Disease - a chronic dystrophic diseases of the foot bones, leading to their aseptic necrosis. The disease can occur with lesions of the navicular bone and metatarsal bones (I Kohler disease) (Kohler disease II). Köhler disease manifested swelling and pain in the foot in the area of the affected bone, increased pain when walking and its progression over time, changes in gait and lameness in one-sided defeat. A characteristic feature is the absence of inflammatory changes in the affected area. Diagnosis of the disease is based on data from X-ray studies. Treatment consists of removing the load from the affected foot by its immobilization and subsequent rehabilitation therapy (physiotherapy, physiotherapy, massage).
Koenig's disease (other names - dissecting osteochondrosis, osteochondritis dissecans) - a kind of osteochondropathy. Most affected young men (15-30 years). The disease affects the knee and hip and is necrosis (necrosis occurs) in a limited area of the articular cartilage. As a result of necrosis of the affected area "off" from the surface of the cartilage, forming the "articular mouse". For the diagnosis of the disease Koenig used X-ray, CT, MRI, arthroscopy. Treatment consists in the removal of necrotic cartilage area. The operation is performed by a minimally invasive procedure using the arthroscope.
Kimura's disease - a disease of unknown etiology accompanied by the formation of eosinophilic infiltration of soft tissues. They are dense knots of varying sizes and shapes, localized in the head and neck. There may be red-brown hue and reach 5-7 cm in diameter. The disease occurs from swollen lymph nodes, without disturbing the patient's general condition. Kimura's disease is diagnosed based on blood test for eosinophils, determine the level of IgE, the study of skin biopsies and lymph nodes (histology, RIF). Tumor tends to samorazresheniyu, but indications can be removed surgically. Perhaps the use of radiotherapy, corticosteroids, cytostatics.
Kyrle's disease - dermatosis of unknown etiology, characterized by recurrent course with the formation in the dermis okolofollikulyarnyh foci of hyperkeratosis. Clinically manifested rash on the extensor surfaces of the hands and feet of small papules dirty red color, covered with horny scales, capable of dissemination. Removal of horny scales opens the moist surface, followed by outcomes in shallow pigmented scar. Diagnosis is based on history, clinical presentation, presence of comorbidities, clinical and laboratory examination. Morphology nonspecific. Treatment is aimed at radical removal of hyperkeratotic lesions.
Cowden's disease - a genetic disease, the main manifestation of which is the formation of benign tumors of the internal organs, and increased incidence of malignancy. Multiple hamartoma and cysts formed in the gastrointestinal tract, mammary gland, reproductive organs. Diagnosis of Cowden disease is partly based on a study of the present status of the patient, but the most accurate result provides genetic analysis. Specific treatment to date does not exist, only symptomatic therapy, including surgery to remove benign tumors.
Cat scratch disease - acute zoonotic infection caused by gram-negative bacterium Bartonella henselae, which penetrates into the human body from bites or scratches from cats. A typical form of the disease cat scratch occurs with primary affect of papulopustular rash, regional lymphadenitis, fever, hepatosplenomegaly. You may experience atypical forms of the disease -. Ocular, anginal, abdominal, lung, cerebral, etc. The clinical diagnosis is confirmed by culturing separated pustules, histological examination of the lymph nodes, ELISA and PCR diagnostics. Causal treatment of cat scratch disease is carried antibacterial agents.
Creutzfeldt-Jakob disease - a rare, degenerative brain disease associated with the accumulation in neurons of the pathological prion protein. Clinically, Creutzfeldt-Jakob disease manifest dementia, pyramidal and extrapyramidal disorders, myoclonia, cerebellar symptoms and impaired vision. The diagnosis of CJD is based on a combination of clinical symptoms, EEG data, analysis of cerebrospinal fluid, MRI and PET brain and morphological study of the sample of brain tissue obtained by biopsy or postmortem. Effective treatment for Creutzfeldt-Jakob disease has not been found. The disease is 100% fatal.
Crohn's disease - granulomatous inflammation of various gastrointestinal tract, characterized by a chronic relapsing and progressive course. Crohn's disease is accompanied by abdominal pain, diarrhea, intestinal bleeding. Systemic symptoms include fever, weight loss, loss of musculoskeletal system (arthropathy, sacroiliitis), eyes (episcleritis, uveitis), skin (erythema nodosum, pyoderma gangrenosum). Diagnosis of Crohn's disease is carried out by means of a colonoscopy, the bowel radiography, CT. Treatment includes diet therapy, anti-inflammatory, immunosuppressive, symptomatic therapy; complications - surgery.
Lyme disease - transmissible infection caused by acts of Borrelia spirochete, enters the body through the bite of ticks. The clinical course of Lyme disease include local skin (chronic migrating erythema) and systemic (fever, myalgia, lymphadenopathy, peripheral neuritis, and cranial nerves, meningitis, encephalitis, myelitis, myocarditis, pericarditis, oligoarthritis, and others.) Manifestations. Confirmation of the diagnosis of Lyme disease contribute to clinical and epidemiological data, identification of antibodies to Borrelia by RIF and pathogen DNA by PCR. Causal treatment of Lyme disease with antibiotics tetracycline.
Disease Laforêt - hereditary myoclonic epilepsy in which the deposition of the polysaccharide substance is observed in various tissues, especially in the cerebral structures. The clinic is dominated by paroxysms of myoclonic, generalized epipristupy, progressive dementia, mental health problems and vision disturbances. Diagnosis includes evaluation of neurological status, visometry, ophthalmoscopy, EEG, brain scans, examination of skin biopsies. The treatment is ineffective, it is a combination of anticonvulsant therapy courses tetrakozaktid.
Lever's disease (benign universal pemphigoid) - a chronic autoimmune neakantolitichesky cystic dermatosis. Clinically characterized by the eruption of tense blisters, as against skin erythema, and the unaltered mucous. Inside the bull is serous, serous-hemorrhagic content. Bubbles opened practically without forming crusts, which do not have time to be formed due to the rapid epithelialization of erosive surfaces in the former vesicles. Subjectively marked itching, a slight indisposition. Diagnosis is based on clinical, microscopy, immune testing. Treatment of complex, according to individual schemes.