Comprehensive medical support for children with hereditary skin diseases

Genodermatoses are a group of hereditary heterogeneous diseases, the distinctive feature of which is the predominant damage to the skin and its appendages. Genodermatoses are distinguished by their variability, a wide range of complications and concomitant pathology from other organs and systems of the body. For timely diagnosis and prescription of symptomatic therapy, patients with genodermatoses require observation by a multidisciplinary team of specialists. Purpose of the study: present the rationale for an integrated approach to diagnosis, treatment and preventive monitoring for genodermatoses using the example of congenital epidermolysis bullosa and ichthyosis. Methods: An analysis of extracutaneous manifestations and complications of such genodermatoses as congenital epidermolysis bullosa and ichthyosis was carried out from foreign and domestic scientific sources. The spectrum of complications and manifestations of internal organs in genodermatoses is described, the topic of symptomatic treatment and management of patients with congenital epidermolysis bullosa and ichthyosis in the neonatal period is highlighted. Recommendations for the symptomatic treatment of skin manifestations and complications of the gastrointestinal tract and musculoskeletal system are described. Results: Based on the analyzed literary sources and our own clinical experience, it can be argued that with genodermatoses, not only the skin, but also other organs and systems of the body are involved in the pathological process. Timely diagnosis of the disease is extremely important for patients with these diseases, since symptomatic treatment of genodermatoses must begin as early as possible. Congenital epidermolysis bullosa and ichthyosis are serious diseases from the group of genetic skin diseases, characterized by great variability in clinical manifestations and a wide range of extracutaneous complications. Conclusions: Preventive observation and treatment of patients with genodermatoses is a complex problem and its solution requires the involvement of a multidisciplinary team of specialists, which should include a dermatologist, pediatrician/therapist, geneticist, gastroenterologist, surgeon, ophthalmologist, otorhinolaryngologist, oncologist, dentist, orthopedist, rehabilitation specialist, psychologist, palliative care physician and qualified nurse.

genodermatoses, congenital epidermolysis bullosa, ichthyosis, complications, deformities, esophageal stenosis, nutritional support, newborns

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