Congenital pachionychia is a heterogeneous group of genetic pathologies having the character of ecto– and mesodermal dysplasia with different types of inheritance. Symptoms of this disease are thickening and subsequent dystrophy of the nails on the hands and feet, keratodermia, especially on the feet, plantar pain, warty growths and peeling of the skin. Diagnosis of…
Congenital generalized lipodystrophy is a group of heterogeneous hereditary diseases that combine metabolic disorders in adipose tissue up to its complete atrophy. Symptoms of this condition are the disappearance of the subcutaneous fat layer on most of the body, black acanthosis of the skin folds, diabetes mellitus. Some forms are also accompanied by varying degrees…
Velo-cardio-facial syndrome is a congenital (sometimes hereditary) disease characterized by multiple malformations and a disorder of cognitive functions. Its main symptoms are defects of the hard palate (obvious and hidden crevices), cardiovascular disorders, mental retardation, characteristic facial features. Diagnosis is made on the basis of the present status of the patient (including during the examination…
Epidermolysis bullosa is a group of hereditary diseases characterized by mild skin vulnerability, hence the second name of these pathologies – “mechanobullous disease”. The main symptom is the development of bubbles with serous contents on the surface of the skin, after which long-lasting erosions occur in their place. Diagnosis of various types of epidermolysis bullosa…
Stargardt’s disease is a hereditary disease of the retina, which is manifested by dystrophic changes in its macular zone and leads to loss of central vision. The onset of the disease occurs in childhood or adolescence. Patients have central scotomas and color vision disorders. The progression of Stargardt’s disease leads to complete blindness. Diagnosis is…
Hayley-Hayley disease is a hereditary disease belonging to the group of vesicular-bullous dermatoses. It is manifested by skin rashes, usually covering the outer sides of the neck, axillary pits, inner surfaces of the thighs, abdomen around the navel, folds of the mammary glands, groin area, perineum. Flat bubbles filled with a transparent liquid are formed,…
Hartnup disease is a rare hereditary disease characterized by a violation of the metabolism of amino acids, mainly tryptophan. The main symptoms are pellagra–like skin rashes on the face and exposed areas of the body, photosensitivity, neurological disorders. The diagnosis is made when an increased concentration of neutral amino acids and their breakdown products is…
Fabry disease is a hereditary disease in which a defect in the structure of genes causes insufficient activity or absence of the enzyme α–galactosidase A, accumulation of intermediate products of lipid metabolism in organs. Symptoms include pain in the extremities, decreased sweating, depression, fatigue, kidney and heart failure, acute disorders of cerebral circulation. For diagnosis,…
Unferricht-Lundborg disease is a hereditary disease affecting the central nervous system and characterized by diverse and progressive manifestations. The main symptoms of pathology are epileptic seizures, myoclonus provoked by external stimuli, increasing mental disorders and sensitive ataxia. Diagnosis of Unferricht-Lundborg disease is based on a neurological examination of the patient, the study of hereditary history…
Tay-Sachs disease is a genetic disease characterized by deficiency of the enzyme hexosaminidase A, accumulation of lipid macromolecules in neurons, impaired functions of the brain and spinal cord. It is manifested by the degradation of physical skills and mental functions: the collapse of the swallowing reflex, speech and voluntary movements, loss of hearing and vision,…