ICHTHYOSIS

From Big Medical Encyclopedia

ICHTHYOSIS (ichthyosis; grech, ichthys fish + - osis; synonym: fish scales, leather of an alligator, krokodilov skin, diffusion keratoma, sauriasis) — the kind of a keratosis which is characterized by generalized disturbance of keratinization of skin.

Descriptions of the damage of skin characteristic for And., occur already in the most ancient written sources (in China in 3 — 2 millennium BC, in Egypt in 2 — 1 millennium BC), and also a bit later — at Hippocrates, etc.

the Aetiology and a pathogeny

And. — hereditary disease; wedge, versions And. are caused by various genovariations which biochemical effect is not deciphered yet. At And. disturbances of protein, amino-acid metabolism, change of activity of some enzymes (e.g., strengthening of activity of oxidizing enzymes in epidermis), a disimmunoglobulinemiya, etc. are noted. A number of authors attaches great value to insufficiency of vitamin A, and also endocrinopathies (insufficiency of function of a thyroid gland, gonads, adrenal glands). Are in certain cases observed ikhtioziformny (reminding And.) changes of skin of the acquired genesis, in relation to the Crimea the term «the acquired ichthyosis» is sometimes used. These changes of skin, as a rule, of symptomatic character can also be display of hypovitaminosis, diseases of the hemopoietic system, senile involution of skin, etc.

Classification

a large number of versions Is described And. Long time the basic was division And. on ordinary (vulgar), shown usually within the first months of life, and inborn, at Krom the child will be born as if in an armor from skin horn stratifications, with signs of inborn uglinesses and an underdevelopment of a number of bodies and systems; as independent form inborn And. allocate inborn ikhtioziformny erythroses). Standard classification And. no. Depending on a wedge, features, hl. obr. color and the nature of horn stratifications, allocated also black, white, nacreous, serpentine and other kinds of I. V 1964 of A. Greither allocated modes of inheritance of various forms; further Wells, Kerr, Schneider and Conrad (R. S. Wells, S. V. of Kerr, 1965; U. W. Schnyder, V. of Konrad, 1968) modes of inheritance took as a basis of classifications.

On the basis of modern kliniko-genetic and patomorfol, data And. it is possible to divide on hereditary and acquired.

The hereditary ichthyosis includes the following forms: 1) ordinary And., in Krom allocate autosomal and dominant type (actually ordinary And.) and recessive X-linked And., being independent form which did not receive still the wedge, names; 2) And. fruit; 3) inborn ikhtioziformny an erythrosis), subdivided on lamellar And. (not violent type) and epidermoliticheskiya And. (or a hyperkeratosis — violent type); 4) unilateral And.; 5) linear bending around And.; 6) thorny And.; 7) the syndromes including And. as symptom.

The acquired ichthyosis, more precisely ikhtioziformny states, are subdivided on 1) symptomatic, 2) senile, 3) discal And.

The ichthyosis ordinary

the Ichthyosis ordinary — the most common form, is inherited autosomal is prepotent; usually develops for 3 months of life or a little later (up to 2 — 3 years).

Patogistologiya: Hyperkeratosis with thinning or total absence of a granular layer — a retentsionny hyperkeratosis (with - m). The acanthceous layer normal or is a little reduced. In a papillary layer of a derma hair follicles and sebaceous glands are a little reduced, perivascular lymphocytic infiltration of average expressiveness. At electronic microscopic examination low differentiation of tonofibrils, the disturbance of synthesis of eleidin which is expressed in reduction and atypia of grains of eleidin in a granular layer, strengthening of ribosomalny activity in epidermis are noted.

At gistokhy, researches reduction of amount of DNA in kernels of cells of basal and acanthceous layers, the pyroninophilia of cytoplasm of acanthceous cells caused by disturbance of proteinaceous, in particular amino-acid, exchange is revealed, In a corneous layer the maintenance of amino groups, tryptophane, SH-group and glycoproteins, deficit fat to - t is increased. In scales of skin increase in quantity of a lysine, leucine, isoleucine, ornithine and reduction of quantity of a tsetrulin is noted.

Fig. 1 — 12. Some clinical manifestations of an ichthyosis. Fig. 1 — 3. Damage of skin of shins (fig. 1) and shoulder (fig. 2) in the form of small thin grayish scales at an ordinary ichthyosis; fig. 3 — an affected area at big increase. Fig. 4 — 6. Damage of skin of brushes (fig. 4) and the lower extremities (fig. 5) in the form of powerful horn stratifications of grayish-brown color at the recessive H-linked ichthyosis; fig. 6 — an affected area at big increase. Fig. 7 — 9. Damage of skin at a lamellar ichthyosis: fig. 7 — persons with an ectropion a century; fig. 8 — trunks and fig. 9 — legs with formation of lamellar scales. Fig. 10. One of affected areas at big increase. Fig. 11 and 12. Damage of palms and soles with development of a keratodermia.



Clinical picture. Owing to a hyperkeratosis and continuous formation of scales skin becomes dry, rough to the touch, wrinkled, dirty-gray color. Patol, changes of skin are especially expressed in the field of elbow, knee joints, an extensor surface of shoulders, forearms, shins (tsvetn. fig. 1 — 3) and hips. Skin of big folds (elbow and subnodal bends, an axillary hollow, a mezhjyagodichny fold) and generative organs, as a rule, is not surprised. On a forehead and cheeks the hyperkeratosis appears usually only at adults. On palms and soles skin lines and folds are emphasized. On skin of a pilar part of the head — the scaly peeling, hair become thinner a little, perhaps poredeny a hair. Also various trikhodisplaziya are described: bambukoobrazny hair, knotty fragility, razvolokneniye of a bast layer of hair. Nail plates become dry, fragile, rough with cross striation, are deformed, the onychogryphosis (the nails reminding claws of birds) can develop. Decrease fat - and a potovydeleniya on sites of a hyperkeratosis is observed; a dermographism and muscular voloskovy a reflex are expressed poorly or are not caused. Sometimes the itch, chilling disturbs.

Ordinary And. lasts all life, the condition of the patient worsens in winter time and improves in summer a little. Wedge, manifestations And. weaken during puberty and at mature age a little. The general condition of patients, as a rule, does not suffer. Ordinary And. it is quite often combined with diseases of allergic genesis — neurodermatitis, eczema, bronchial asthma, vasculomotor rhinitis, and also psoriasis, a pyoderma, a cryptorchism, etc.

Depending on a look and extent of formation of scales distinguish the following a wedge, options ordinary And.: a) And. abortal (synonym: a xeroderma, a xerodermia) — the easiest version And., characterized by dryness, a roughness of skin of preferential extensor surface of extremities, buttocks at the expense of perifollikulyarno the located small scaly scales. If to carry out on skin by the pallet or a nail, the white strip of a mukovidny peeling appears. Skin is easily irritated, especially during the washing with soap, and is predisposed to eczematization; b) And. idle time — is characterized by small scales of grayish-white color which central part is densely attached to skin, the corneous layer of skin reminds the cracked parchment; c) And. shining — differs in transparency and tenderness of the scales which are located in the form of a mosaic, hl. obr. on extremities; d) And. white — is characterized by white color of the scales making an impression that skin is sprinkled with flour; e) violent And. — a rare atypical version, it is described by Siemens (H. W. Siemens, 1937), it is characterized by emergence of bubbles with serous contents against the background of ichthyotic changes of skin; e) it is seldom observed localized And. — the limited site of skin is surprised; the transitional and mixed options are possible. == The ichthyosis the X- Ichthyosis linked recessive == the X-linked recessive is allocated as an independent form from ordinary And. by means of genetic researches Kokkeyn (E. A. Cockayne, 1933). Wedge, and gistol, features of this form I. were accurately described by Wells (1965), Kerr (1966), Kuokkanen (To. Kuokkanen, 1969), etc. Only men are ill; women (heterozygote) give a mutant gene to sons; the disease is very rare.

Patogistologiya: proliferative hyperkeratosis (a hyperkeratosis with granulezy), small focal acanthosis (see), the hypertrophy of nipples of a derma, perivascular lymphocytic infiltrates is expressed. In a derma the number of sebaceous glands is normal, stalemate — is reduced. At a submicroscopy keratogialinovy grains of normal structure are increased in quantity. Reduction of serine in scales of skin is noted.

Clinical picture. The disease is shown at the birth or in several weeks after the birth. In patol, process is involved all integument, in 30% of cases including and bends. Palms and soles usually are not surprised. At children skin of a pilar part of the head, a face, a neck is involved in process; with age patol, changes in the specified places weaken, however changes of skin on a stomach, a breast, extremities amplify. Scales are usually big, dark. The hyperkeratosis is especially strengthened in the field of extensive, the surfaces of extremities, on elbows and knees (tsvetn. fig. 4 — 6).

Believe that clinically this form I. it is shown usually in the form of black And., characterized in brownish-black color of the scales which are densely sitting on skin reminding guards; serpentine And., the corneous layer which is characterized by thick dark scales (plates), numerous small cracks and large — to 1 cm guards of dirty-gray or brown color why skin reminds snake; horn And. — skin reminds an armor of a lizard. In certain cases ordinary I. Neredko can remind damage of skin dystrophy of hair is observed; development of a cataract is characteristic; mental retardation, epilepsy, a hypogonadism, anomalies of a skeleton is sometimes observed.

Ichthyosis of a fruit

Ichthyosis of a fruit (synonym: the fruit of the harlequin, a colloid fruit, a malignant keratoma) develops on 4 — 5th month of pregnancy. It is inherited autosomal retsessivno.

Patogistologiya — a proliferative hyperkeratosis, an acanthosis, lymphocytic infiltrates in a papillary layer of a derma.

Clinical picture. Skin of the newborn is covered with the horn armor consisting of thick horn guards of gray-black color, up to 1 cm thick, smooth or jagged, divided by furrows and cracks. Lips are slow-moving, the actinostome of the child is stretched or so sharply narrowed that hardly passably the probe. Noye and auricles are deformed, eyelids of a vyvorochena. Extremities ugly (talipomanus, a clubfoot, contractures), hair and nails are absent or are dystrophic. Pregnant women often have premature births; children with And. can be mortinatus, most of such children dies in several hours or days after the birth as a result of accession of consecutive infection, disturbance of breath, a heart and renal failure, inferiority of bodies and systems.

Ikhtioziformny inborn erythrosis

Ikhtioziformnaya inborn erythrosis (synonym: the inborn ikhtioziformny erythrosis of Brock, a giperepidermotrofiya generalized Vidalya, a hyperkeratosis inborn Unna, a hyperkeratosis ikhtioziformny generalized or total to Darya, a keratosis red inborn Rilya, a keratosis exfoliative inborn Kokkeyna) is described by L. Brock (1902); it is clinically subdivided into two versions — not violent and violent. Many authors consider not violent version identical lamellar And., modern writers more often call a violent version an epidermolitichesky hyperkeratosis, or an ichthyosis.

The ichthyosis lamellar

the Ichthyosis lamellar is described by Seligmann (E. Seligmann, 1841) under the term «epidermal desquamation of newborns», the name «lamellar ichthyosis» is entered by Grass and Torok (I. Grass, L. Torok, 1895). It is inherited autosomal retsessivno.

Patogistologiya: proliferative hyperkeratosis, sometimes parakeratosis (see), moderate acanthosis, hypertrophy of nipples of a derma, increase in quantity grease and sweat glands, perivascular infiltrates. At electronic microscopic examination — increase in quantity keratinosy in an upper part of an acanthceous layer, badly konturiruyemy tonofibrils, big keratogialinovy granules; in epidermis increase in the cementing intercellular substance, a large number of mitochondrions in a granular layer. Gistokhim, researches established increase in content of oxidizing enzymes (acid phosphatase) in epidermis.

Clinical picture. The disease is shown at the birth in the form of a so-called colloid fruit. Read (W. Reed, 1972) with soavt, claims that the colloid fruit can be manifestation not only lamellar And., but also epidermolitichesky And., as well as., linked to X-chromosome, Shegren's syndrome — Larsson, etc. Skin of the child at the birth is completely covered with the thin dry yellowish-brownish film reminding a collodion. Regarding cases this film, having existed a nek-swarm time, turns into large scales (lamellar exfoliation of newborns) and at chest age completely disappears; skin throughout all life remains normal. In the majority of cases of a scale, formed of a film, remain for the rest of life, skin under them bright red color (erythrosis) — actually lamellar And. (tsvetn. fig. 7 — 10), a wedge, a picture to-rogo matches the described earlier not violent type of an ikhtioziformny erythrosis. However some authors express doubt in their full identity.

Damage of skin continuous, and change of skin is pleated often more expressed. Face skin is red, it is tense, it is shelled, a pilar part of the head is covered with plentiful scales. The increased perspiration is observed. Hair and nails usually grow quickly (giperdermotrofiya), nail plates are deformed, thickened, the hyponychial keratosis, and also a keratosis of palms and soles develops (tsvetn. fig. 11 and 12). Cases of total are described alopecias (see). With age the erythrosis decreases, and the hyperkeratosis amplifies. The century (see) which is one of diagnostic characters is characteristic an inborn bilateral ectropion, Krom is quite often accompanied keratitis (see), lagophthalmia (see), photophobia (see). Anomalies of teeth, mental retardation are sometimes observed.

Ichthyosis of epidermoliticheskiya

Ichthyosis of epidermoliticheskiya (synonym: the violent inborn erythrosis of Brock, akantokeratoliz universal inborn Nikolsky, an inborn ikhtioziformny epidermolysis, a hyperkeratosis of epidermoliticheskiya) is inherited autosomal is prepotent.

Patogistologiya. The corneous layer is thickened, with sites of a parakeratosis, granulez, an acanthosis, signs of a dyskeratosis — round little bodies and grains (see. Dyskeratosis ). In an acanthceous layer — intercellular hypostasis, acanthceous cells contain small and large basphilic granules and piknotichny kernels, borders of cells in average and upper parts indistinct. Nipples of a derma are hypertrophied. In a top coat of a derma the expressed inflammatory infiltrate. At a submicroscopy in a corneous layer vertical orientation of korneotsit and signs of incomplete keratinization of cells, in a granular layer — a large number of large cells with the expressed areola around the kernels containing basphilic eleidin are revealed. In an acanthceous layer increase in formation of tonofibrils, ribosomes, mitochondrions. Tonofibrils in the form of wide locks, blocks, perinuclear accumulations. The structure of desmosomes is not broken, frustration of a complex of a desmosome — the tonofibril does not come to light unlike other akantolitichesky dermatosis (a vulgar pemphigus, Guzhero's disease — Hailey — Hailey, diseases to Darya).

Clinical picture. The disease is shown since the birth. On bright red skin of the newborn there are bubbles of various size with a sluggish tire, a positive symptom of Nikolsky (see. Pemphigus ), ectropion is not observed. Usually by 3 — 4 years of life the quantity of bubbles is sharply reduced, being replaced by strengthening of a hyperkeratosis in the form of the friable horn stratifications which are localized preferential in large folds on a neck, the back of brushes and feet. Skin is dry, but elastic. On a mucous membrane of a mouth, a throat can be leukoplakia (see), deformations of bones are described. Sweating is reduced. In hard cases of bubbles happens very much that the child seems scalded; in several days, it is frequent at emergence purpuras (see), there comes death. Also the localized forms — in the form of limited damage of skin (a breast, a neck, forearms) are described.

Ichthyosis unilateral

Ichthyosis unilateral (synonym: unilateral ikhtioziformny erythrosis of Rossman). Til of inheritance is unknown.

Patogistologiya: proliferatsionny hyperkeratosis, moderate acanthosis, perivascular infiltrates of inflammatory character in a papillary layer of a derma.

Clinical picture. Patol, process in the form of an erythema with the progressing hyperkeratosis takes a half of the face, trunks, an upper extremity on the same party; it is usually combined with bone deformations (rudimentary extremities) and cystous changes of a kidney on the party of damage of skin, and also with the brain disturbances found by means of an electroencephalography. == An ichthyosis the linear Ichthyosis which is bending around == linear bending around (a synonym: the inborn migrating dyskeratosis) is described by the Butt (M. Cornel, 1949). One authors consider this disease of option - an inborn ikhtioziformny erythrosis, others assume that it is option of a variable erythrokeratodermia or eczematids. Mode of inheritance autosomal and recessive.

Patogistologiya: focal parakeratosis and granulez, subhorn cavities, a moderate acanthosis, small hypostasis of a derma with limfogistiotsitarny infiltrate around vessels.

Clinical picture. The disease arises from the first days of life. Rashes are localized usually on a trunk, the flexion surface of extremities and consist of linearly located polycyclic or ring-shaped sites of an erythema, is frequent with a grayish shade, surrounded with slightly raised weak-pink roller with a lamellar peeling and sometimes a small amount of the small, quickly shrinking bubbles. Tendency to variability of outlines makes an impression of increase in the centers of defeat and pulls together this form with a figured changeable erythrokeratodermia (see. Keratoza ). The skin of elbow bends and subnodal hollows thickened, which coarsened (is lichenified). On a pilar part of the head small lamellar peeling, hair are quite often changed as pili torti (see. Hair, table ), palmar and bottom hyperhidrosis (see). Periodically there occur spontaneous remissions. In certain cases there can come the sharp aggravation with development of universal erythroses (see), temperature reaction and deterioration in the general condition of the patient, but usually general state is not broken, easy burning in the centers of defeat sometimes disturbs. Lag in mental development of the child is possible.

An ichthyosis thorny

the Ichthyosis thorny — a rare form I., inherited autosomal it is prepotent. The term «thorny ichthyosis» was applied for many years as the name of various verrukozny thorny linear educations and therefore as synonyms the terms «epidermal nevus», «violent ikhtioziformny hyperkeratosis», etc. were used that led to confusion in terminology. It speaks a wedge, similarity of an autosomal and dominant disease to a verrukozny epidermal (warty) nevus.

Patogistologiya: hyperkeratosis, granulez, disorganization of a granular layer and vacuolation of specific type of cells of granular and acanthceous layers for the account inside - and intercellular hypostasis, an acanthosis, a papillomatosis.

Clinical picture. At the birth there is only an expressed erythema (without peeling and bubbles). Within several weeks the erythema turns pale, there is a diffusion peeling with the subsequent development of massive warty horn stratifications in the form of the pointed thorns and needles acting on 5 — 10 mm over the level of skin. Sites of the strengthened cornification have S-and V-shaped linear forms, dirty-gray or brown-black color. Nail plates can be thickened, up to an onychogryphosis (see. Nails ). Sometimes this form I. at boys it is combined by mentally retarded (deficiency of intellect) and epilepsy.

Differentiate with a verrukozny nevus on a basis gistol, pictures.

Syndromes

the Syndromes including And. in a complex of hereditary defects: Refsuma syndrome (see), Shegrena — Larsson a syndrome (see), including and Greyter's syndrome, Neterton's syndrome, a syndrome Ore, Jung's syndrome — Vogel, Popov's syndrome (see. Keratoza, table ). Non-constant symptom And. can be at Konradi's syndrome (see. Chondrodystrophia ).

Ikhtioziformny changes of skin

Ikhtioziformny changes of skin (so-called acquired And.) can be observed at avitaminosis And, aging (senile And.), Hodzhkin's disease, Down syndrome, toxidermia, fungoid mycosis, leprosy, hypothyroidism, cancer of internals, etc. The hyperkeratosis is usually expressed poorly, on type xerosis (see).

In 1906 Toyama (T. Toyama) described a special form of the acquired ikhtioziformny state under the name «Pityriasis circinata», an etiology and a pathogeny to-rogo is not clear; further this disease received the name «discal ichthyosis». The disease is observed in Japan, South Africa, etc.

Patogistologiya: the hyperkeratosis, acanthosis, granular elephant is a little increased, a parakeratosis. in a derma small inflammatory infiltrate.

It is clinically shown at children's age in the form of a roughness, a xeroderma of extensor surfaces of extremities, trunks; the head, a face, generative organs, mucous membranes, palms and soles, nail plates are not surprised. Further on the centers of defeat roundish or oval rough brown plaques which quantity can be variously form. The current is chronic, with spontaneous remissions, more often in summertime.

The diagnosis, as a rule, does not present difficulty; diagnosis of a specific form I. the wedge, symptoms in total with features gistol, pictures and identification of an etiology and mode of inheritance is put on a basis.

Differential diagnosis And. and other forms of keratoz — see. Keratoza , table.

Treatment

Appoint Retinolum (vitamin A) inside in high doses (to 30 drops 2 times a day) repeated courses for a long time; intramusculary injections or in the capsule of Aevitum. Many authors described good effect at treatment of children retinoic to - that (25 mg a day) within 25 days with the subsequent dose decline. Appoint also a pyridoxine (vitamin B 6 ), cyanocobalamine (polyneuramin 12 ), hematotherapy, iron preparations, arsenic. In hard cases lamellar and epidermolitichesky And. — corticosteroid drugs inside. Sea bathings, heat baths (t ° 38 °) with addition of sodium borate, hydro-sodium carbonate, starch, sea and sodium chloride are shown also Ural federal district (100 — 200 g on a bathtub). Outwardly — cream with a concentrate of vitamin A, cream from 10% sodium chloride, 10 — 20% urea, 2% salicylic cream, pork fat, other ozhiryayushchy creams. A resort therapy in Pyatigorsk, Sochi-Matsesta, etc. using carbonic bathtubs, heliothalassotherapy.

The forecast

the Forecast depends on a form I. At ordinary, lamellar, X-linked And., thorny And., bending around And. forecast, as a rule, favorable for life. Dispensary observation, preventive courses of treatment during the autumn and winter periods a complex of polyneuramins a combination to Ural federal district promote maintenance of skin of patients in rather safe state.

At inborn And., eiidermolitichesky And., hereditary syndromes the lethal outcomes caused by disturbance of development of vitals and systems are possible.


Bibliography: Kryazheva S. S., Vedrova I. N. and Yelets A. Yu. Kliniko-genetichesky features of various forms of an ichthyosis, Vestn, dermas, and veins., No. 9, page 17, 1977; To at to l and V. T. N, and lch e of N to about L. I. and L about m e of N to about Yu. N. Definition of absorption of lipids through digestive tract at patients with an ichthyosis, in the same place, No. 10, page 53, 1977; Pototsky I. I. Giperkeratozy, Kiev, 1977, bibliogr.; Suvorova K. N and Antonyev A. A. Hereditary dermatosis, M., 1977, bibliogr.; In about with q L. Erythrodermia congenitale ichthyosiforme avec hyperepidermotrophie, Ann. Derm. Sypb. (Paris), t. 3, p. 1, 1902; G u 1-1 e n S. I. a. o. Congenital unilateral ich-thyosiform erythroderma, Arch. Derm. (Chicago), v. 99, p. 724, 1969; N e b e H.u. Schwarz R. Erfahrungen mit der Vitamin-A-Saiire-Behandlung der ichthyosis congenitalarvata und der Erythrodermie ichthyosiforme congenitale, Derm. Mschr., Bd 160, S. 219, 1974; N e t h e r t o n E. W. A unique case of trichorrhexis nodosa — «bamboo hairs», Arch. Derm. (Chicago), v. 78, p. 483, 1958, bibliogr.; R a d h a k-rishnamurthy K. R a t n a k u-mari C. Pityriasis rotunda, discoid ichthyosis, Indian J. Derm. Venerol., v. 39, p. 167, 1973; R u d E. Case of infantilism with tetany, epilepsy, polyneuritis, ichthyosis and pernicious anemia, Hospitalstidende, v. 70, p. 525, 1927; W e 1 1 s R. S. a. Kerr C. B. Genetic classification of ichthyosis, Arch. Derm. (Chicago), v. 92, p. 1, 1965.

S. S. Kryazheva.

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