Difficulties of differential diagnosis and therapy of Komel-Netherton syndrome. Clinical case description and literature review

Brazhnikova A., Bolshakova E., Gorlanov I., Manylova E., Mineeva O., Solomatina N., Suspitsin E.

Saint-Petersburg State Pediatric Medical University of the Ministry of Healthcare of the Russian Federation, Saint-Petersburg

Comel-Netherton syndrome (CNs) is a rare hereditary disease, the incidence of which varies significantly, which may be due to insufficient awareness of specialists and the lack of possibility of confirming the diagnosis by molecular genetic methods. Erythroderma with desquamation from birth can occur in various congenital diseases from various groups: keratinization disorders, primary immunodeficiency syndromes, as well as congenital metabolic disorders, therefore, physical examination data alone are not enough to make a diagnosis. Additional clinical symptoms, such as lesions of the skin appendages in the form of "bamboo" hair, growth and developmental retardation, recurrent infectious diseases, manifestations of atopy and immediate immunological reactions, appear over time and are expressed to varying degrees in patients with CNs, which complicates diagnostics and prolongs the time before the correct diagnosis can be established. The use of screening methods of molecular genetic diagnostics is not always informative, since it excludes the possibility of identifying rare mutations. To treat this group of patients, a comprehensive approach is needed, based on knowledge of the immunological features of the syndrome, using drugs for targeted action on the pathogenetic stages of its development. This publication describes the case history of one of the patients with CNs, who are under the supervision of specialists of the skin department of the Saint- Petersburg State Pediatric Medical University, from the moment of clinical diagnosis to the present. In the case of patient V., we encountered a number of difficulties both in verifying the syndrome, which was associated with the peculiarities disease phenotype development and the specificity of the hereditary factor, and during therapy. The purpose of this report is to draw the attention of a wide range of specialists to the problem of hereditary diseases, because at the current stage of development of medical technologies, and especially in the future, such children may have a chance for a significant improvement in the quality of life, provided that the diagnosis is correctly established.