Congenital bullous ichthyosis-like erythroderma

Introduction to congenital bullous ichthyosis-like erythroderma Congenital bullous ichthyosis-like erythroderma (congenitalbullousichthyosiformerythroderma), also known as ichthyosis-like erythroderma (buld type), bullous ichthyosis-like hyperkeratosis, dominant genetic congenital ichthyosis, epidermal lysis Sexual keratosis ichthyosis. It is a congenital disease with autosomal dominant inheritance. basic knowledge The proportion of illness: 0.001% Susceptible population: newborn Mode of infection: non-infectious Complications: verrucous keratosis

Causes of congenital bullous ichthyosis-like erythroderma

Genetic (30%):

Dominant congenital ichthyosiform erythroderma is an autosomal dominant inheritance.

Pathogenesis

The disease is associated with the K1 keratin gene on chromosome 12 or the K16 keratin gene mutation on chromosome 17, which may cause keratin formation, abnormal accumulation of intracellular tension filaments, destruction of cytoskeletal networks and lamellar bodies. Secretion leads to an increase in water loss.

Pathophysiology

There may be obvious hyperkeratosis, intracellular edema, and the epidermal cells are loosened, so the pathological changes are epidermolytic. It can also be seen that the network is vacuolated. The particle layer can be significantly thickened. Binuclear cells are common in the spine cell layer. Electron microscopy showed the formation of an empty halo around the nucleus. The rate of division of epidermal cells is also significantly increased, and the time for cells to reach the epidermis can be significantly shortened and shed quickly, and water loss can be increased. Dermal edema with lymphatic and histiocytic infiltration. Electron microscopy showed that the tension wire arrangement was disordered and the desmosome contact was poor. Transparent keratin particles vary in size.

Congenital bullous ichthyosis-like erythroderma prevention

There are no effective preventive measures for this disease.

Congenital bullous ichthyosis-like erythroderma complications Complications

No complications at present.

Congenital bullous ichthyosis-like erythrodermic symptoms Common symptoms ichthyosis-like red skin palm toe skin yellow keratin scaly layered ichthyosis bullous (with purulent liquid)

At birth, there are redness of the skin and thickening of the keratin. The scales such as the armor are widely distributed throughout the body. After the scales fall off, the moist surface is left, there may be loose bullae, and the flexion of the limbs and the folds are heavier. Inguinal, axillary, axillary, elbow fossa and other visible gray-brown scaly scales, palmar palpebral keratinization, nails and hair normal, this type of ichthyosis can have localized linear lesions in the neck and back of the hands and feet, Symptoms gradually decrease with age.

Examination of congenital bullous ichthyosis-like erythroderma

Histopathology: The epidermis exhibits characteristic epidermal detachment hyperkeratosis, showing significant hyperkeratosis, moderate acanthosis, granule layer can be significantly thickened, and there are reticular gaps in the epidermis with unclear cell boundaries. Due to intracellular edema, there is moderate chronic inflammatory infiltration in the upper part of the dermis. Electron microscopy shows excessive formation of tension filaments in the perinuclear region, which is characterized by large and large keratin particles.

Diagnosis and diagnosis of congenital bullous ichthyosis-like erythroderma

According to the clinical manifestations, the characteristics of skin lesions and histopathological features can be diagnosed.

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