Morphological features of a patient with progeroid phenotype
https://doi.org/10.24884/1607-4181-2023-30-3-92-99
Abstract
Currently, in medical genetics, there is a significant gap between real medical care and scientific achievements in the field of molecular biological technologies. The diagnosis of hereditary pathology is made infrequently, and genetic knowledge is slowly entering medical practice. Most patients with hereditary disorders are under completely different diagnoses and are treated by specialists according to the principle of the leading clinical symptom, such as, for example, mental retardation, skeletal deformities, ocular pathology, hearing loss, atrophic, ichthyosis-like or psoriasiform skin changes, etc. The clinic of hereditary diseases is often similar to well-known and frequently occurring diseases, since there is a phenotypic similarity of genetically heterogeneous diseases. Misdiagnosis leads to pathogenetically unjustified treatment. In our work, we described a clinical case of progeroid syndrome that confirmed by cytogenetic diagnostics based on the Pavlov University (Saint Petersburg, Russia). The patient has been observed with various dermatological syndromes for 26 years. With a multidisciplinary approach to the verification of hereditary disease, dermatovenerologists and geneticists were able to define the hereditary nature of the skin lesion in the patient and confirm her progeroid syndrome.
About the Authors
М. А. Korzhenevskaya
Pavlov University
Russian Federation
Competing Interests:
Russian Federation
Korzhenevskaya Marina A., Cand. of Sci. (Biol.), Head of the Department of Medical Biology and Genetics
6-8, L’va Tolstogo str., Saint Petersburg
Competing Interests:
Авторы заявили об отсутствии конфликта интересов
S. V. Kashina
Pavlov University
Russian Federation
Competing Interests:
Russian Federation
Kashina Svetlana V., Resident of the Department of Dermatovenerology
6-8, L’va Tolstogo str., Saint Petersburg
Competing Interests:
Авторы заявили об отсутствии конфликта интересов
Т. L. Gindina
Pavlov University
Russian Federation
Competing Interests:
Russian Federation
Gindina Tatyana L., Cand. of Sci. (Med.), Laboratory Geneticist Head of the Laboratory of Cytogenetics and Diagnosis of Genetic Diseases, Raisa Gorbacheva Memorial Research Institute for Pediatric Oncology, Hematology and Transplantation
6-8, L’va Tolstogo str., Saint Petersburg
Competing Interests:
Авторы заявили об отсутствии конфликта интересов
О. L. Romanova
Pavlov University
Russian Federation
Competing Interests:
Russian Federation
Romanova Oksana L., Cand. of Sci. (Med.), Dermatovenerologist, Associate Professor of the Department of Dermatovenerology, Cand. of Sci. (Biol.)
6-8, L’va Tolstogo str., Saint Petersburg
Competing Interests:
Авторы заявили об отсутствии конфликта интересов
V. А. Seredina
Pavlov University
Russian Federation
Competing Interests:
Russian Federation
Seredina Vera A., Dermatovenerologist of the Clinic for Dermatovenerology
6-8, L’va Tolstogo str., Saint Petersburg
Competing Interests:
Авторы заявили об отсутствии конфликта интересов
S. А. Laptiev
Pavlov University
Russian Federation
Competing Interests:
Russian Federation
Laptiev Sergey A., Cand. of Sci. (Biol.), Geneticist, Assistant of the Department of Medical Biology and Genetics
6-8, L’va Tolstogo str., Saint Petersburg
Competing Interests:
Авторы заявили об отсутствии конфликта интересов
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Korzhenevskaya М.А., Kashina S.V., Gindina Т.L., Romanova О.L., Seredina V.А., Laptiev S.А. Morphological features of a patient with progeroid phenotype. The Scientific Notes of the Pavlov University. 2023;30(3):92-99. (In Russ.) https://doi.org/10.24884/1607-4181-2023-30-3-92-99
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