Clinical experience of observation and tactics of management of a patient with ectodermal angydrotic dysplasia
- Authors: Startseva E.Y.1, Bobrova O.V.1, Letyaeva O.I.2, Ziganshin O.R.1,2, Zakomoldina K.K.2
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Affiliations:
- Chelyabinsk Regional Clinical Dermatovenereology
- South-Ural State Medical University
- Issue: Vol 24, No 2 (2021)
- Pages: 179-186
- Section: DERMATOLOGY
- URL: https://rjsvd.com/1560-9588/article/view/64274
- DOI: https://doi.org/10.17816/dv64274
- ID: 64274
Cite item
Abstract
The concept of “ectodermal dysplasias” covers a group of rare hereditary developmental anomalies that have a variety of phenotypic variants, but are characterized by common signs of underdevelopment or abnormal formation of organs and tissues derived from the ectodermal layer (skin and its derivatives - nails, hair, teeth, nervous system and sensory organs) ... Approximately 25% of ectodermal dysplasias known to date are inherited in an autosomal dominant or autosomal recessive manner; in other cases, the mode of inheritance is unclear. The syndrome is characterized by a wide range of clinical manifestations and may include additional symptoms of damage to other ectodermal, mesodermal, and endodermal structures. Ectodermal anomalies are a manifestation of disturbances in spatial-temporal coordination during the development of the epidermis. They involve genes such as EGF (epidermal growth factor), ED1 (ectodisplasin), EDAR (anhydrotic receptor ectodysplasin 1) and others that regulate the activity of genes involved in epidermal morphogenesis by activating or suppressing transcription factors (in particular, pb3; Koster). So far, only about 20% of genes have been identified that are responsible for about 200 ectodermal dysplasias of various symptoms and severity. This article describes the clinical observation of a patient with a rare disease - ectodermal anhydrotic dysplasia. The literature data on the clinical features of the course of this dermatosis, as well as the features of the course in this patient are presented.
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About the authors
Elena Y. Startseva
Chelyabinsk Regional Clinical Dermatovenereology
Email: hron_derm@chokkvd74.ru
ORCID iD: 0000-0003-3987-6176
Russian Federation, 24, st. Yablochkina, Chelyabinsk, 454048
Olga V. Bobrova
Chelyabinsk Regional Clinical Dermatovenereology
Email: frantseva.olga@list.ru
Russian Federation, 24, st. Yablochkina, Chelyabinsk, 454048
Olga I. Letyaeva
South-Ural State Medical University
Email: olga-letyaeva@yandex.ru
ORCID iD: 0000-0002-9085-6229
SPIN-code: 3312-3150
Russian Federation, 64 Vorovskogo st., Chelyabinsk, 454092
Oleg R. Ziganshin
Chelyabinsk Regional Clinical Dermatovenereology; South-Ural State Medical University
Email: ziganshin_oleg@mail.ru
ORCID iD: 0000-0002-5857-0319
SPIN-code: 5339-2533
MD, Dr. Sci. (Med.)
Russian Federation, 24, st. Yablochkina, Chelyabinsk, 454048; 64 Vorovskogo st., Chelyabinsk 454092Ksenia K. Zakomoldina
South-Ural State Medical University
Author for correspondence.
Email: ksinja@mail.ru
ORCID iD: 0000-0003-4699-9465
Clinical Resident
Russian Federation, 64 Vorovskogo st., Chelyabinsk, 454092References
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