Ichthyosiform erythroderma is a set of genetic dermatoses, which are based on a total lesion of the skin of an inflammatory nature with the formation of “fish scales” of epidermal hyperkeratosis, sometimes with the phenomena of vesicular eruptions. Clinically, the disease is characterized by a bright erythema discharge with lamellar peeling resembling mica, corneal hyperkeratotic layers. The primary elements are localized in the armpits, large folds of the skin, around the joints. The diagnosis is made on the basis of anamnesis and clinic. Treatment is carried out with courses of retinol with the addition of antibacterial therapy, if necessary; keratolytics are used externally.
Ichthyosiform erythroderma is a type of congenital ichthyosis, a distinctive feature of which is a violation of keratinization of the skin with inflammatory phenomena. It exists both as an independent disease and as one of the symptoms of a large number of syndromic pathologies (for example, Sjogren-Larsson syndrome, Netherton syndrome, KID syndrome, neutral fat accumulation syndrome). Dermatosis has no gender component. There are no statistics on the prevalence of the disease.
Since the “matrix” of the disease is congenital ichthyosis, the mention of which was left by Chinese doctors in the II-III millennium BC, there are countless descriptions of this pathology. In 1891 , the French dermatologist E. Vidal compared ichthyosis with a limited form of neurodermatitis, in the same year L. Brock and L. Jaco emphasized the constitutional coloration of dermatosis, later the German doctor G. Unna described one of the varieties of pathology under the guise of congenital palmar-plantar keratoma. Ichthyosiform total hyperkeratosis was dealt with by D. Darye. In 1964, y. Greiter proposed a clinical and genetic classification of the disease, which has not lost its relevance today.
The cause of ichthyosiform erythroderma is obvious – it is a gene mutation. And although 33 varieties of ichthyosiform dermatoses and conditions resembling them are registered in the international catalog of hereditary forms of ichthyosis, the etiology is the same for all. The type of inheritance can be either autosomal recessive or autosomal dominant, which is determined by the mutation of a particular gene. In the autosomal recessive type, the gene responsible for the formation of the epidermis mutates, the autosomal dominant mutation is associated with the gene responsible for the synthesis of keratides. At the level of biochemical processes in the body of patients, a high level of n-alkanes is determined (the frequency of valence vibrations of carbon-hydrogen bonds changes).
There is no uniform classification of the disease in dermatology. The most convenient, in our opinion, is the following division of ichthyosiform erythroderma:
1. Ichthyosiform erythroderma as an independent disease.
- congenital bullous ichthyosiform erythroderma: the primary element is a bubble, a positive symptom of Nikolsky; autosomal dominant type of inheritance;
- congenital ichthyosiform nebulous erythroderma: the primary element is a scale tightly soldered to the dermis, hypersecretion of sweat glands, rapid growth of hair and nails; autosomal recessive type of inheritance;
- lamellar (lamellar) ichthyosis: colloidal fetus, untreated fatal outcome in the first days of life; autosomal recessive type of inheritance.
2. Syndromes with the phenomena of ichthyosiform erythroderma as one of the symptoms (Sjogren-Larsson syndrome, Tau syndrome, KID syndrome, neutral fat accumulation syndrome, Netherton syndrome, CHILD syndrome, Konradi-Hunermann syndrome, Jung-Vogel syndrome, Gersum syndrome, Ore syndrome).
Since a whole group of diseases is collected under the term “ichthyosiform erythroderma”, the clinical picture of each of them is determined by the type of pathology and the severity of the course of dermatosis. However, there are also general signs of the disease. Thus, the “dry” forms of the disease are characterized by a feeling of tightness of the skin with the phenomena of severe peeling against the background of bright erythema. The shape and size of the scales are very different, but no more than 1 cm; they are thin, transparent, having a strong grip on the skin in the center. There is no typical localization, any part of the skin is involved in the process. The glandular apparatus of the dermis sharply reduces the production of secretions, which leads to a decrease in the protective function of the skin, the addition of secondary infection, the appearance of dermatitis.
The extreme degree of the “dry” type of pathology is a colloidal fetus, when the entire skin of the newborn seems to be covered with a brown cellophane film. Part of the film breaks up into segments, which transform into scales. Sometimes the film splits into segments for no apparent reason and disappears without a trace. The disease is accompanied by hyperdermotrophy (rapid growth of hair and nails), hyperkeratosis of the palms and soles. Alopecia, dental anomalies, photophobia may develop. Bullous variants of ichthyosiform erythroderma are manifested by a heteroform blistering rash against a background of bright red erythema. Nikolsky’s symptom is positive (the skin, due to blisters in the epidermis, becomes like tissue paper, easily peels off, exposing shiny hyperemic areas without pyoderma). The bubbles transform into keratin scales, but the skin retains elasticity. In severe cases, the mucous membranes are affected, purpura develops (capillary hemorrhages) with a fatal outcome.
In the event that ichthyosiform erythroderma is the main symptom of a particular syndrome, its clinic acts as a background component of the pathological process. In Sjogren-Larsson syndrome, the skin is affected by erythema from birth, which is replaced by hyperpigmentation, hyperkeratosis. Rashes on the limbs and trunk are localized, there is no sweating. Skin pathology is combined with dementia, epilepsy, spastic paralysis. Tau syndrome (trichotiodystrophy) combines the clinic of “dry” ichthyosiform erythroderma with impaired intelligence and fragility of skin appendages.
The skin component in CID syndrome is represented by peeling plaques on the cheeks, chin, back of the nose, behind the ears; keratosis on the palms. Combined with congenital deafness. Chanarin-Dorfman syndrome is a combination of “dry” ichthyosiform erythroderma with myopathy, cataracts, deafness and pathology of internal organs. Netherton’s syndrome is diagnosed by a “dry” erythrodermic skin lesion resembling neurodermatitis, multiple destruction of hair (bamboo-like hair), growth disorder. CHILD syndrome is manifested by “dry” ichthyosiform erythroderma with limb dysplasia. Cutaneous manifestations of Conradi-Hunermann syndrome are ichthyosiform erythroderma with achondroplasia. Jung-Vogel syndrome is palmar-plantar hyperkeratosis of the ichthyosiform type. Gersum’s syndrome is itchy ichthyosiform erythroderma. Alopecia in combination with ichthyosiform erythroderma are manifestations of Ore syndrome.
The diagnosis is made on the basis of anamnesis data, clinical manifestations of the disease, with vesicular elements, histological examination is used, revealing granular destruction of the epidermis. Differential diagnosis of ichthyosiform erythroderma is carried out with vulgar ichthyosis (typically intrauterine lesion of large skin folds), epidemic pemphigus of newborns (characterized by contagiousness, rash of blisters with purulent contents, high fever), congenital syphilis (based on serological reactions, absence of erythema and keratosis). Differential diagnosis with xeroderma is helped by a special test: when carried out on the skin with a spatula, a bright white, “snowy” strip of peeling remains. Psoriatic erythroderma is characterized by a typical diagnostic triad on individual preserved papules and a histological picture; with atopic dermatitis, the entire skin is never affected, rashes are accompanied by itching; toxicoderma occurs against the background of taking medications, differs in polymorphism of rashes.
The general principle of treatment of ichthyosiform erythroderma is to correct the sharply reduced production of vitamin A. For this, retinol and its derivatives are used according to individual schemes in terms of 1 kg of body weight. Since the dose of vitamin A is significant, each patient should undergo a detailed examination before starting treatment to assess kidney, liver function and blood lipid levels. The dosage of retinol is lower, the more pronounced the inflammatory component of the pathological process. In severe cases of the disease, retinol is combined with glucocorticoids in short courses. In case of secondary infection, antibiotics (erythromycin) are indicated. Externally, with “dry” varieties of the disease, keratolytics are used (6% salicylic ointment). The effectiveness of treatment increases with the appointment of PUVA therapy, selective phototherapy according to indications. There is no prevention. The prognosis is relatively favorable, the lamellar form of ichthyosiform erythroderma is the most unfavorable. Full recovery is impossible.