Hereditary diseases of the skin
Most hereditary diseases of the skin and has a predominantly ectodermal origin ekomezodermalnoe.The main group of up monogenic autosomal dominant disease, rarely seen autosomal recessive dermatosis, and make up a small part of the sex-linked, namely, X-linked, dermatoses.The most common are diseases characterized violation of keratinization, less frequent dermatosis with lesions of the connective tissue, increased photosensitivity (sensitivity to light), pigmentation disorders, dysplasia, epidermolysis bullosa, and a number of other skin diseases.The major multifactorial diseases are psoriasis, atopic dermatitis and vitiligo, whose frequency in the population is much more in comparison with the above-mentioned dermatoses.
Skin changes are observed in chromosomal diseases, hereditary diseases of other organs and systems, primarily caused by disturbances of various kinds of exchange, as well as in congenital malformations.Although in these cases the skin is not the primary pathology but knowledge of sympt
" or depigmentation lesions (areas containing no pigment at all) on the trunk, resembling in appearance fern may be the first sign of neurofibromatosis and tuberous sclerosis, respectively.Have fair skin, bleached hair can be a manifestation of Menkes syndrome, or phenylketonuria, especially when combined with ekzemopodobnye dermatitis in the latter case.Diffuse hyperpigmentation (deposition in some areas of the skin a large amount of pigment so that the skin at this place becomes darker) require exclusion of hemochromatosis.Eritematoskvamoznye rashes, which are located in areas of the face can be a symptom of disorders of biotin metabolism.The combination of focal keratoses on the fingertips with keratitis is usually a sign of tyrosinemia type II.The presence of the child in the face or scalp epidermal nevus or salnozhelezistogo ( "mole") is an indication to consult a neurologist for early detection of organic brain damage.It is of great importance and syndromes in which chromosomal instability is detected (eg, Bloom's syndrome), which is associated with a high risk of the presence of malignant disease.
Data on the prevalence of hereditary skin diseases in different countries are scarce and difficult to compare with each other due to the differences in the approach to obtaining data.When studying the geography of hereditary dermatoses in our country set a similar level of burdening in certain areas of non-chernozem zone of Russia, Uzbekistan and Azerbaijan, with a predominance of autosomal recessive diseases (albinism, lamellar ichthyosis) in Uzbekistan and Azerbaijan, and inherited autosomal dominant (simple ichthyosis, tuberoussclerosis) in the Non-Black Earth.Many genetically determined skin disorders are genetically heterogeneous.Most of them already exist from birth or develop soon after, but some (such as Werner's syndrome) is manifested clinically in adults.
In some hereditary diseases of the skin set the localization genes identified primary biochemical defect, but the mechanisms of development of the majority of hereditary diseases of the skin is not clarified, as well as not developed and effective treatments.Of the achievements of recent years can be noted the effectiveness of zinc supplementation during enteropathic acrodermatitis and retinoids in diseases of keratinization.Prenatal (antenatal) diagnosis is carried out with a relatively small number of genetically determined skin diseases are limited and the identification of heterozygous carriers.