Ichthyosis
The content of the article:
- Causes and risk factors
- Forms of the disease
- Symptoms
- Diagnostics
- Treatment
- Possible complications and consequences
- Forecast
- Prevention
Ichthyosis (from the Greek ichthys - "fish") is a genetically determined skin disease, characterized by its excessive keratinization with deformation like fish scales.
Ichthyosis - excessive keratinization of the skin with deformation like fish scales
With a disease, individual areas of the skin and the entire skin can be involved in the pathological process; the degree of change also varies widely.
Ichthyosis has been known since ancient times: mentions of it are found in ancient Indian and Chinese texts dating back to the 4th - 3rd millennium BC. e. For the first time, a full clinical picture of the disease was described in the early 19th century by R. Willan; later, in 1842, W. Wilson proposed the name "skin disease in the form of fish scales" to denote pathology.
Currently, on the basis of data from versatile studies (immunological, genetic, cyto- and histological), the presence of more than 50 nosological forms of the disease has actually been confirmed.
Synonyms: diffuse keratoma, sauriasis, ichthyosiform dermatosis.
Causes and risk factors
Until now, despite a comprehensive study of the problem, there is no unambiguous position on the etiology and pathogenesis of the disease.
The triggering mechanism of structural changes in the skin is reliably known: mutations or impaired expression covering more than 50 genes encoding DNA repair, lipid synthesis, adhesion and desquamation processes (bonding of horny scales to each other and their exfoliation, renewal of the epidermis surface), processes of cell differentiation, etc. The presence of several points of mutation in one gene is characteristic, which causes many clinical forms of the disease.
With ichthyosis, the formation of keratin and enzymes involved in keratinization, structural proteins of cell membranes, proteins responsible for keratinization of the epidermis and the formation of the fatty barrier of the skin are disrupted.
With ichthyosis, the process of keratinization of the skin occurs
The disease is inherited autosomal dominantly, less often - recessively or X-linked.
The causes of acquired ichthyosis-like conditions, as a rule, are the following diseases and pathological conditions:
- lymphoma;
- lymphogranulomatosis;
- leprosy (leprosy);
- AIDS;
- malabsorption syndrome;
- taking cimetidine, nicotinic acid preparations;
- malignant neoplasms of the skin;
- hypovitaminosis A; and etc.
Forms of the disease
Currently, many classifications of the disease have been proposed, based on a variety of criteria.
Based on the presence or absence of a genetic defect:
- hereditary ichthyosis, subdivided into autosomal dominant (vulgar) and autosomal recessive (lamellar, "Harlequin's fetus", Komel's linear ichthyosis, Lambert's acicular ichthyosis);
- hereditary syndromes, which include ichthyosis as a symptom (syndromes of Netherton, Refsum, Popov, Rud, Jung - Vogel, Sjogren - Larsson);
- acquired forms of ichthyosis (symptomatic, senile and disc-shaped).
Hereditary form of ichthyosis
According to the severity of the course:
- a severe form of ichthyosis, incompatible with life;
- moderate severity;
- late form [delayed, developing during the first months (less often years) of life].
Based on the type of inheritance:
- autosomal recessive;
- autosomal dominant;
- X-linked.
Clinical and morphological forms (depending on the nature of keratinization):
- retention;
- proliferative;
- acanthokeratolytic.
The most widespread in recent years has been the classification proposed in 2009 at the I Consensus Conference on Ichthyosis, based on the principle of syndromism:
- non-syndromic forms limited only to skin lesions (vulgar and X-linked recessive ichthyosis, "Harlequin's fetus", lamellar, congenital ichthyosiform erythroderma, ichthyosis as a bathing suit, epidermolytic and superficial epidermolytic, etc.);
- syndromic forms of the disease in which internal organs are involved in the pathological process (syndromes of Rud, Sjogren - Larsson, Netherton, Refsum, KID-, CHIME-, CHILD-syndromes).
Symptoms
The group of ichthyosis is formed by more than 50 clinical and morphological forms, which implies a variety of manifestations of the disease. Nevertheless, a number of common symptoms can be distinguished:
- pronounced thickening of the stratum corneum of the epidermis, the presence of skin scales, keratinization zones;
- peeling and dry skin;
- changes in nail plates (onychogryphosis - deformation of the "bird's claws" type, detachment of the nail from the underlying soft tissues, separation and fragility of the plate), hair (dryness, fragility, thinning) and teeth (multiple caries);
- deepening of the skin pattern;
- skin rashes of various colors and shapes.
The disease is characterized by an exacerbation in the autumn-winter period, remission in the warm season, a decrease in painful manifestations during puberty.
Dry and brittle hair is one of the signs of ichthyosis
In addition to general clinical symptoms, various forms of ichthyosis have a number of characteristic features.
Vulgar ichthyosis, representing more than 90% of all cases of the disease, develops during the first 2-3 months of life, rarely - during the first 2-3 years, is lifelong. In this case, there is a widespread lesion: the skin is dry, rough, thickened, dirty gray in color with a layering of many scales. The most pronounced changes are noted on the extensor surfaces of the elbow and knee joints.
Depending on the nature of the peeling, there are several clinical variants of ichthyosis vulgaris:
- xeroderma - dryness and roughness of the skin without scaly layers, is an abortive form of simple ichthyosis;
- simple ichthyosis - damage to the entire surface of the body, including the scalp, small scales with a dense center attached to the underlying tissues;
- shiny ichthyosis - scales are transparent, mosaic located, localized mainly on the lower extremities;
- white ichthyosis - the scales have a whitish-yellow color and outwardly resemble asbestos fibers;
- serpentine ichthyosis - the layers have a rough appearance, brownish color and resemble snake scales.
The skin manifestations of the disease are accompanied by chronic pathologies of many internal organs: bronchial asthma, vasomotor rhinitis, chronic conjunctivitis, various visual impairments, pathologies of the hepatobiliary zone.
Lamellar ichthyosis (collodion fruit) is manifested already at the time of birth by the reddened skin of the newborn, covered with a hard yellowish film like a frozen glue solution (collodion). In some cases, the film is transformed into scales and then disappears without a trace, but more often the scales remain on the skin for life.
Fetal ichthyosis (fetal, "Harlequin's fetus") is formed at 4-5 months of intrauterine development; manifestations of the disease are fatal, therefore, pregnancy is spontaneously terminated or ends with the birth of a still child. With a live birth, the newborn dies in the first days from exhaustion or infection of skin defects. The skin of newborns is covered with a corneous carapace consisting of gray-black scutes up to 1 cm thick, smooth or serrated, separated by grooves and cracks. The mouth opening is stretched or, conversely, sharply narrowed, resembles a trunk. Facial features, ears, limbs are deformed, eyelids are twisted.
Komel's linear enveloping ichthyosis affects more often girls in the first year of life. On the trunk and flexion surfaces of the limbs, polymorphic erythematous rashes, small vesicles, foci of lichenization appear, on the face and scalp - small lamellar peeling. Patients may have a lag in mental and physical development.
X-linked ichthyosis is diagnosed exclusively in males and develops during the first weeks of life. The pathological process, as a rule, involves the entire skin, with the exception of the palms and soles, as the disease grows older. The scales in this case are large, dark in color, tight-fitting, resembling shields. Skin manifestations in X-linked ichthyosis may be accompanied by epilepsy, mental retardation, mental illness, and endocrine disorders.
Hereditary syndromes in which ichthyosis is presented as a separate symptom:
- Netherton's syndrome - congenital ichthyosis and hair changes in combination with atopy, mostly women are ill;
- Refsum's syndrome - ichthyosis, retinitis pigmentosa, polyneuritis, mental retardation;
- Rud's syndrome - a combination of ichthyosis, damage to the nervous system (epilepsy, mental retardation, polyneuritis), sometimes in combination with the pathology of the hematopoietic (macrocytic anemia) and endocrine (infantilism) systems;
- Sjogren's syndrome - Larsson - hereditary ichthyosis, spastic paralysis and oligophrenia;
- Popov's syndrome - congenital ichthyosis, dwarf growth, dementia and multiple osteoporosis.
Diagnostics
Diagnosis of the disease is based on an assessment of the characteristic clinical picture, electron microscopy data.
Cyto- and histological examination reveals a sharp thinning or complete absence of the granular layer and extensive intercellular edema of the basal layer of the epidermis, deformation of the basement membrane, perivascular lymphocytic infiltrates in the papillary dermis, changes in the shape and organelles of epidermal cells.
Treatment
Treatment of ichthyosis is symptomatic, aimed at reducing the dryness of the skin and softening the horny scales:
- moisturizers and ointments;
- keratolytic agents;
- retinoids.
When treating ichthyosis, it is important to reduce the dryness of the skin and soften the horny scales.
In addition to local remedies, the following are used in the treatment of ichthyosis:
- immunostimulating drugs;
- vitamin therapy;
- glucocorticosteroid hormones;
- UV irradiation;
- thalasso and peloid therapy.
Since in the cold season with insufficient air humidity, the condition of patients worsens, it is recommended to use spa treatment in a warm, humid climate.
Possible complications and consequences
The main complications of ichthyosis are the addition of a secondary infection and the development of sepsis with subsequent death.
Forecast
The prognosis for recovery from ichthyosis is usually unfavorable: a significant regression of symptoms is observed in isolated cases. The disease is lifelong, proceeds in waves with episodes of exacerbations and remissions, progresses under the influence of aggressive factors.
An unfavorable prognosis for life is noted with ichthyosis of the fetus: newborns usually die during the first days or weeks of life.
The favorableness of the prognosis decreases in the presence of multiple concomitant pathology of internal organs, the extent of the lesion.
Prevention
The main preventive method is preliminary medical and genetic counseling, especially if the hereditary history is burdened with cases of ichthyosis.
If there is a high risk of having a sick child in a couple, future parents are advised to abandon pregnancy planning.
If ichthyosis is detected in utero in severe cases, it is recommended to terminate the pregnancy.
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Olesya Smolnyakova Therapy, clinical pharmacology and pharmacotherapy About the author
Education: higher, 2004 (GOU VPO "Kursk State Medical University"), specialty "General Medicine", qualification "Doctor". 2008-2012 - Postgraduate student of the Department of Clinical Pharmacology, KSMU, Candidate of Medical Sciences (2013, specialty "Pharmacology, Clinical Pharmacology"). 2014-2015 - professional retraining, specialty "Management in education", FSBEI HPE "KSU".
The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!
