Congenital dysceratosis: clinical observation
https://doi.org/10.21626/vestnik/2018-2/07
Abstract
Congenital dyskeratosis (syndrome of Zinsser-Engman-Cole) belongs to the group of rare genetic syndromes, which are manifested by skin and mucous membranes abnormalities, bone marrow insufficiency and a tendency to develop malignant diseases. This pathology is extremely rare, up to the present time there are no exact data, approximately the prevalence is 1: 1 000 000 per year, with predominantly male patients (in the ratio of 3: 1). In total, according to the literature, about 60 patients with this pathology are described. The article describes the clinical case of congenital dyskeratosis in a child aged 1 year 10 months, its main clinical manifestations, features of diagnosis and treatment.
About the Authors
T. A. Emelianova
Kursk State Medical University
Russian Federation
Russian Federation
I. G. Khmelevskaya
Kursk State Medical University
Russian Federation
Russian Federation
T. A. Minenkova
Kursk State Medical University
Russian Federation
Russian Federation
N. S. Razyinkova
Kursk State Medical University
Russian Federation
Russian Federation
A. V. Yakovleva
Kursk State Medical University
Russian Federation
Russian Federation
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Review
For citations:
Emelianova T.A., Khmelevskaya I.G., Minenkova T.A., Razyinkova N.S., Yakovleva A.V. Congenital dysceratosis: clinical observation. Kursk Scientific and Practical Bulletin "Man and His Health". 2018;(2):44-48. (In Russ.) https://doi.org/10.21626/vestnik/2018-2/07
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