Authors present data about genotyping studies in dermatology illustrating the main applications and practical importance of genetic analyses for dermatologists.
Authors discuss influence of genetic factors on a clinical presentation and course of genetic dermatoses and multifactorial dermatoses, and underline the importance of technologies of molecular genetics for diagnosis and treatment of skin diseases.
Literature data (45 Russian and foreign papers) as well own experience of treatment of different forms of Darrier disease in 12 patients. Peculiarities of the disease course and therapy are discussed.
Neurofibromatosis is a genetically heterogenic group of monogenic diseases with determined etiology (neurofibromatosis I, neurofibromatosis II, schwannomatosis) and disorders with unclear molecular nature. In this review diagnostic criteria of neurofibromatosis I and II and schwannomatosis are presented. New data concerning correlation of genotype and phenotype in neurofibromatosis I as well as clinical and genetic characteristics of other forms.
Authors carried out a comparative assessment of comorbid metabolic syndrome (MS) on a clinical course, severity of disorders of porphyrin, lipid, and carbohydrate metabolism in patients with porphyria cutanea tarda (PCT). Sample included 34 patients (31 men and 3 women) from 33 to 68 years old (mean age 48 ± 2,1 y.o.). In 20 patients (main group) MS was diagnosed which was associated with hepatitis C virus infection (HCV). The comparison group included 14 patients without any signs of MS. The examination revealed no significant influence of MS on a clinical course and dermatological manifestation of PCT. But in patients with MS cardiovascular disorders were more often present, as well as disorders of lipid and carbohydrate metabolism along with higher levels of uroporphyrin in urine. The additive effect of MS and HCV infection on a liver function is unfavourable. As a rule, patients with PCT and MS have comorbid polyorgan pathology and should be treated as patients with higher risk of coronary complications and diabetes mellitus II.
Analysis of literature data is presented concerning clinical picture of Naegelli's pigmented reticular dermatosis and Futcher's pigmented demarcation line. A case of combination of these disorders in a child is described.
In order to increase efficiency and safety of treatment of atopic dermatitis among children and adults modern glucocorticosteroid ointment methylprednisolone aceponate is offered for drug phonophoresis method.
A case of Muir-Torre syndrome is described, which manifested with a combination of skin tumors (keratoakantoma, adenoms or cancer of sebaceous glands and neoplasia of internal organs). Most often gastrointestinal tract and urogenital system are affected. Authors present a case of persistent giant keratoacantoma, sebaceous adenomas and prostate adenocarcinoma in a patient. Sebaceous tumors are the obligatory marker of Muir-Torre syndrome, that is why it is important to look for internal neoplasia after the detection of these tumours.
Authors present a review of russian and foreign literature (22 papers) concerning etiology, pathogenesis, classification, diagnosis and treatment of bullous epidermolysis. A case of congenital dystrophic bullous epidermolysis in a 15 years old patient is described.
The data are presented demonstrating an apparent delay in physical development in patients with bullous epidermolysis: at birth the stature and weigh correspond to norms, and during the further growth significant delay in physical development becomes apparent. The reasons of this disorder are discussed as well as appropriate nourishment measurements.
Etiology, pathogenesis, clinical and histopathologic diagnostic criteria as well as therapeutic approach to Gronblad-Strandberg syndrome are discussed. A case of Gronblad-Strandberg syndrome is presented. The disorder manifested in 47 years old patient with disseminated pseudoxantoma elasticum on a skin of neck, axillae, and other zones as well as angioid stripes in Bruch's membrane and lower legs arteries affection.
Review of Russian and foreign literature (18 papers) concerning inherited scleroderma is presented in two and three generations of relatives.
Authors present two cases of such rare disorder as inherited ichthyosis in newborns, successfully treated in in-patient department. Current literature data concerning etiology, pathogenesis, clinical presentation and therapy of inherited ichthyosis are also presented.
Monilethrix - rare genetic disorder of hair shaft with clinical picture of hair fragility. The disease is inherited autosome-dominantly and develops as a result of disorder of keratin synthesis. Review of thw literature and case report are presented.
Genodermatoses - a problem, which needs more detailed investigations and organization of patients rehabilitation. During the last 15 years in Primorye territory 58 cases of genodermatoses were detected. Ar the same time genodermatoses are still rarely timely diagnosed because of heterogeneity of clinical presentation. Besides that, as a rule these patients stay for follow up by non-dermatologists. Obviously such situation is a result of insufficient knowledge in this field and luck of communication between detmatologists and other specialists, shortage of guidance materials and guidelines on genodermatoses for practicing specialists of health service. Several cases of Werner syndrome and inherited psoriasis are presented.
Authors discuss the influence of phenotipic heterogeneity in atopic dermatitis on therapeutic effectiveness of different drugs. As an example a group of calcineurin inhibitors (ciclosporin A, pimecrolimus and tacrolimus). Some results of international and own studies are presented.
For the purpose of research of agents for treatment of skin diseases, accompanied by skin dryness, an assessment of clinical effectivity of "Aysida" preparations (cream-gel for dry and sensitive skin). The cream-gel was applied in patients after the main treatment course for moderate to severe atopic dermatitis (AD), and as main treatment preparation for mild AD and skin xerosis