Photogallery. Genodermatoses. Part I
- Authors: Teplyuk N.P.1, Grabovskaya O.V.2, Kochergin N.G.3, Kayumova L.N.4
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Affiliations:
- I.M. Sechenov First Moscow State Medical University (Sechenov University)
- I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)
- The First Sechenov Moscow State Medical University (Sechenov University)
- I.M. Sechenov First Moscow State Medical University
- Issue: Vol 26, No 5 (2023)
- Pages: 535-539
- Section: PHOTO GALLERY
- URL: https://rjsvd.com/1560-9588/article/view/585217
- DOI: https://doi.org/10.17816/dv585217
- ID: 585217
Cite item
Abstract
Genodermatoses are skin diseases caused by the inheritance of a pathological gene responsible for the formation of a particular skin structure.
Hereditary diseases can be monogenic, polygenic and chromosomal. Genodermatoses follow Mendelian inheritance (autosomal dominant, autosomal recessive or sex-linked). Some genodermatoses appear as a result of genetic mosaicism (parts of two different chromosomes exchange their fragments).
Autosomal dominant disorder manifest in every generation in women and men with the same frequency. Recessive genodermatoses are usually more severe and rarer. In this case, both parents are carriers of the pathological gene, but are clinically (phenotypically) healthy. The risk of developing of autosomal recessive pathology increases highly in closely related marriages.
We present a gallery of the hereditary dermatoses.
Neurofibromatosis is a neurocutaneous syndrome characterized by the formation of benign tumors in the skin, soft tissues, nervous system and internal organs.
Congenital epidermolysis bullosa is a group of genodermatoses with the development of intraepidermal blisters that arise spontaneously or as a result of minor trauma.
Tuberous sclerosis (Bourneville–Pringle disease) is a hereditary disease characterized by hyperplasia of ectodermal and mesodermal derivatives, leading to disruption of embryonic differentiation. It damages the skin, central nervous system and other organs.
Pseudoxanthoma elasticum is characterized by calcification of elastic fibers of the skin with damage to the vision organ, cardiovascular system and reproductive function.
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About the authors
Natalya P. Teplyuk
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Author for correspondence.
Email: Teplyukn@gmail.com
ORCID iD: 0000-0002-5800-4800
SPIN-code: 8013-3256
MD, Dr. Sci. (Med.), Professor
Russian Federation, MoscowOlga V. Grabovskaya
I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)
Email: olgadoctor2013@yandex.ru
ORCID iD: 0000-0002-5259-7481
SPIN-code: 1843-1090
MD, Cand. Sci. (Med.), Associate Professor
Russian Federation, MoscowNikolay G. Kochergin
The First Sechenov Moscow State Medical University (Sechenov University)
Email: nkocha@yandex.ru
ORCID iD: 0000-0001-7136-4053
SPIN-code: 1403-3031
MD, Dr. Sci. (Med.), Professor
Russian Federation, MoscowLyailya N. Kayumova
I.M. Sechenov First Moscow State Medical University
Email: avestohka2005@inbox.ru
ORCID iD: 0000-0003-0301-737X
SPIN-code: 4391-9553
MD, Cand. Sci. (Med.), Assistant Lecturer
Russian Federation, Moscow