Photogallery. Genodermatoses. Part II
- Authors: Teplyuk N.P.1, Grabovskaya O.V.1, Kochergin N.G.1, Kayumova L.N.1
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Affiliations:
- I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)
- Issue: Vol 26, No 6 (2023)
- Pages: 661-665
- Section: PHOTO GALLERY
- URL: https://journals.rcsi.science/1560-9588/article/view/254776
- DOI: https://doi.org/10.17816/dv623664
- ID: 254776
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Abstract
Genodermatoses are a group of hereditary diseases primarily affecting the skin. To date, there are more than two hundred genetically determined dermatoses representing about 35% of all genetic diseases and 10% of all skin diseases. Genodermatoses can be caused by mutations in a single gene or the interaction of several genes and environmental factors. Hereditary diseases are characterized by a wide variety of phenotypic manifestations and the diagnostic complexity which represents a serious problem in modern dermatology.
We present a gallery of hereditary dermatoses.
Unna-Tost disease is a genodermatosis inherited in an autosomal dominant manner and characterized by diffuse excessive keratinization of the skin on the palms and soles, manifesting in the first to second year of life.
Buschke-Fischer-Brauer punctate palmoplantar keratoderma is a late-developing focal dermatosis in which painful hyperkeratotic papules can occur when traumatized.
Ehlers-Danlos syndrome is a condition demonstrating skin hyperextensibility and a number of typical symptoms of the skeletal and cardiovascular systems.
Progeria manifests as premature skin aging, affecting the endocrine, skeletal, cardiovascular, and other systems of the body, as well as increasing the risk of developing malignant neoplasms of internal organs and skin.
Congenital ichthyosiform erythroderma of Brocq is a severe chronic skin disease with autosomal recessive inheritance, which follows the pattern of lamellar ichthyosis but to a milder degree.
X-linked ichthyosis, a hereditary "darkening" condition, occurs only in males and is characterized by impaired keratinization and the presence of gray-black scales on the skin.
Lamellar ichthyosis is an autosomal recessive dermatosis characterized by generalized skin involvement.
Netherton syndrome is a rare condition characterized by a combination of ichthyosis with structural anomalies of the hair shaft and atopy.
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##article.viewOnOriginalSite##About the authors
Natalia P. Teplyuk
I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (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, Bolshaya Pirogovskaya Str., 4/1, 119991, 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, Dr. Sci. (Med.); Professor
Russian Federation, Bolshaya Pirogovskaya Str., 4/1, 119991, MoscowNikolay G. Kochergin
I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)
Email: nkocha@yandex.ru
ORCID iD: 0000-0001-7136-4053
SPIN-code: 1403-3031
Scopus Author ID: 6602082412
MD, Dr. Sci. (Med.); Professor
Russian Federation, Bolshaya Pirogovskaya Str., 4/1, 119991, MoscowLyailya N. Kayumova
I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)
Email: avestohka2005@inbox.ru
ORCID iD: 0000-0003-0301-737X
Associated Professor
Russian Federation, Bolshaya Pirogovskaya Str., 4/1, 119991, Moscow