Forms and what happens to the skin
The stratum corneum can be compared to brickwork, where the cells are the bricks and the lipids between them are the mortar. With ichthyosis, either the cell structure or the composition of lipids is disrupted, so the barrier allows moisture to pass out, and the scales do not separate. The most common form is ichthyosis vulgaris, associated with a deficiency of the protein filaggrin; it manifests itself in early childhood with small light scales on the extensor surfaces, an enhanced pattern of the palms and is often combined with atopic dermatitis. The X-linked form occurs in boys and produces larger, darker scales. Congenital severe forms are noticeable already at birth.
- Vulgar ichthyosis is the most common and mildest form
- X-linked ichthyosis - in boys, dark large scales
- Congenital ichthyosiform erythroderma
- Lamellar ichthyosis with dense plates
- Syndromic forms with damage to other organs
- Acquired ichthyosis in adults as a sign of another disease
Symptoms
The main manifestation is persistent dryness and flaking, which does not go away with regular creams. The scales can be small and light or large, dark, tightly fitting and shell-like. The skin is tight, rough to the touch, and cracks easily, especially on the legs, feet and hands. Characterized by reinforced folds on the palms and soles and small spines around the hair follicles on the shoulders and thighs. Itching is possible, but it is not the main symptom. The condition worsens noticeably in winter and in dry climates, and improves in summer and humid air.
- Persistent dryness and flaking of the skin
- Scales in the form of plates or small flakes
- Cracks on the feet and hands
- Reinforced pattern on palms and soles
- Roughness around hair follicles
- Worse in winter, better in warm, humid climates
Diagnostics
The diagnosis is usually made clinically: the doctor evaluates the type, size and location of the scales, the age of onset and the presence of similar problems in relatives. Family history is especially important because different forms are inherited differently. Skin biopsy is used rarely and in unclear cases. Genetic research helps to accurately determine the form, which is important for prognosis, family planning and selection of treatment for severe variants. If pronounced peeling first appears in an adult, this is a reason to be examined: acquired ichthyosis can be a sign of thyroid disease, deficiencies, some tumors and a side effect of medications.
- Examination by a dermatologist and assessment of family history
- Genetic research to clarify the form
- Skin biopsy in unclear cases
- Thyroid screening at onset in an adult
- Examination by an ophthalmologist and ENT doctor for syndromic forms
- Family genetic consultation
Daily care is the basis of treatment
The main task is to replenish the damaged barrier and gently remove excess scales. The basis is generously applied emollients - products with fats, moisturizing and keratolytic components; They need to be applied every day, not in courses, and it is better immediately after a shower on damp skin. Baths are warm, short, with mild detergents without alkali; After water, the skin is blotted rather than rubbed. Humidifying the air in the room is beneficial. Keratolytic agents are selected by a doctor; in young children they are used with caution, since the substances are absorbed through a large area of skin.
- Emollients daily and in large quantities
- Apply to damp skin immediately after shower
- Mild detergents without alkali, short warm baths
- Keratolytic agents only as prescribed by a doctor
- Humidifier in winter and in air-conditioned rooms
- Gentle mechanical removal of softened scales
Treatment of severe forms and complications
For severe congenital forms, care alone is not enough, and a dermatologist may prescribe systemic retinoids. These are effective, but serious drugs: they require monitoring of tests and are absolutely contraindicated during pregnancy, therefore they are prescribed only by a doctor and under supervision. It is important to monitor complications: cracks are easily infected, the dense stratum corneum interferes with sweating and increases the risk of overheating in the heat, and in some forms hearing and eyes are affected. Children with ichthyosis need cool clothing, plenty of fluids, and attention during the hot season.
- Systemic retinoids for severe forms as prescribed by a doctor
- Control of tests during therapy and reliable contraception
- Timely treatment of cracks and associated infections
- Prevention of overheating: coolness, light clothing, drinking
- Observation by an ophthalmologist and ENT doctor for syndromic forms
- Psychological support for children and adolescents