Ichthyosis and ichthyosiform dermatoses

August 12, 2017 17:52 | Genetic Diseases

It is also a heterogeneous group of hereditary diseases of keratinization, differing on emerging symptoms, mode of inheritance and associated symptoms.A common feature of these diseases is the dryness of the skin and pronounced layering flakes.

There are two forms of ichthyosis - normal, and X-linked.Ichthyosiform dermatosis - a diverse group of keratinization diseases, including diseases such as nebulleznaya ichthyosiform erythroderma, lamellar ichthyosis, bullous ichthyosiform erythroderma, and a number of syndromes.

Common ichthyosis is the most common, its frequency is estimated to be 1: 3000 inherited this pathology in an autosomal dominant manner.The first signs of the disease appear in early childhood, usually after 3 months of age.At the same time, both sexes are affected equally often.Manifested ichthyosis dryness and peeling of the skin, most pronounced on the inner surface of the extremities.Skin folds with ichthyosis are not affected.The palms and soles are dry, with marked skin pattern and

recessed folds, giving them a senile appearance.Nails are not changed.Many people with these symptoms are signs of allergic reactions.With age, the intensity of the process subsides somewhat.

X-linked (sex-linked) recessive inherited ichthyosis type, which explains its more rare occurrence, with a frequency of 1: 6000 in males.Full development of all symptoms characteristic of this form of ichthyosis, only boys there.Unlike ordinary ichthyosis this form of the disease can manifest from birth.The scales formed on the skin of the child, a large, reddish color.The process involves also the skin folds, neck, dorsum of the foot, but there are no changes on the palms and soles.Skin changes are more pronounced on the inner surface of the legs and abdomen, peeling can be a significant scalp.Often, the additional examination revealed corneal opacities and hypoplasia of the genitals.

ichthyosiform erythroderma are different from the usual presence of ichthyosis symptoms already at birth, as well as the presence of signs of inflammation (swelling, redness, pain, local increase in skin temperature).When bullosa form on the skin blisters are present, especially in the neonatal period ™ and early childhood.This also affects the skin folds often enough - the skin appendages (hair, nails).

For bullous ichthyosiform erythroderma is characterized by pronounced layers of scales on the inner surface of the joint, the presence of bubbles, the accelerated growth of hair and nails.Facial Skin changes slightly expressed, located mainly in the lower part thereof.The disease is inherited in an autosomal dominant manner.

special place is the so-called congenital ichthyosis, which is a heterogeneous group of diseases of the skin, which, depending on the severity of the process, may not be compatible with life (the fruit of a harlequin, or congenital severe ichthyosis), degenerate into a form of ichthyosiform erythroderma (the so-calledkollodiyny fruit) or almost completely cured spontaneously during the first months of life.

intermediate space between the common focal keratoses and hold curly variable erythro-keratoderma transmitted in an autosomal dominant inheritance type.The main feature of these conditions is the presence of skin lesions, have a variety of outline shapes in a changing border within minutes, hours or days.

Treatment .The main tool used for the treatment of ichthyosis, a vitamin A and keratolytic agents.When ichthyosiform erythroderma most effective drug such as tigazon (at an initial dose of 0.5-1 mg / kg body weight, the presence of bubbles - 0.3 mg / kg of body weight per day).In some forms of this group of diseases is possible prenatal diagnosis.To this end, a dedicated study amniotic fluid.Prenatal diagnosis of congenital ichthyosiform erythroderma is performed by microscopic study of fetal skin taken at 18-20 weeks of gestation.