Photogallery. Genodermatoses. Part I
Natalya P. Teplyuk , Olga V. Grabovskaya , Nikolay G. Kochergin , Lyailya N. Kayumova
Russian Journal of Skin and Venereal Diseases ›› 2023, Vol. 26 ›› Issue (5) : 535 -539.
Photogallery. Genodermatoses. Part I
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.
neurofibromatosis / congenital bullous epidermolysis / tuberous sclerosis / pseudoxanthoma elasticum
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