Palmar-plantar keratoderma: causes, symptoms, diagnosis, treatment

Palmar-plantar keratoderma is a large group of diseases, very different in their morphology. Some of them are an independent disease, others are part of numerous syndromes, while others represent one of the manifestations of diffuse keratoses. Histogenetically, the whole variety of clinical manifestations can be reduced to several hygomorphological types.

All palmar-plantar keratodermia have common histological signs: acanthosis is expressed in different degrees. Hyperkeratosis, sometimes focal parakeratosis; changes in the basal layer of the epidermis and basal membrane are absent. Inflammatory reaction in the dermis, as a rule, no, only occasionally there are small perivascular infiltrates in its upper part. Specific features that allow separating the palmar-lining keratoderma into different types include changes in the structure of granular and prickly layers of the epidermis: hyperkeratosis with an increase in the number of layers of the granular layer (granulosis), zidermolytic hyperkeratosis. Atrophy or absence of a granular layer. Hyperkeratosis and granulosis are noted with the vast majority of palmar-plantar keratodermias, both in diffuse and in limited forms.

To the diffuse forms of keratoderma include the following nosological units.

Palmar-plantar keratodermia of Toasta-Unna is inherited in autosomal dominating type, characterized by diffuse lesion of palms and soles. Changes in the area of interphalangeal joints of the hands are also described. There is from birth or develops during the first year of life, rarely - at a later age. There is diffuse keratosis of the palms and soles with a streak of stagnant zritima but its edge. Painful cracks are frequent.

Pathomorphology. Pronounced hyperkeratosis, granulosis, hypertrophy of sweat ides, sometimes a picture of epidermolytic hyperkeratosis, but in such cases it is necessary to exclude the limited form of bullous ichthyosiform erythroderma. Electron microscopic examination revealed atypical keratogialine granules of two types - less electronically dense granular structures and more electronically dense granules attached to the first.

Palmar-plantar keratoderma of Werner. It is inherited by autosomal dominant type. A mutation of the gene encoding keratin 9 located in the locus 17ql2-q21 was revealed. The disease develops in the first weeks of life. The clinical picture is similar to the palmar-plantar keratoderma of Toast-Uina. Hyperhidrosis and thickening of nail plates are noted. A spontaneous detachment of horny masses, occurring 1-2 times a year, is described.

Pathomorphology. Similar to that of congenital bullous ichthyosiform erythroderma ,. Which is confirmed by electron microscopy. It can be assumed that the basis of the histogenesis of the disease is a violation of the formation of tonofibrils. Biochemical analysis revealed the appearance of low-molecular keratin in the epidermis, indicating the violation of epithelial cell differentiation.

The mutilating keratoderma is inherited in an autosomal dominant type, characterized by the presence of keratosis with a honeycomb surface on the palms and soles, keratotic foci of stellate outlines on the rear of the brushes and hands, the inner surface of the wrist joints, and ring-shaped fringes of the fingers (pseudoin gum). Often there are onychodystrophies, diffuse alopecia is described.

Honeycomb keratosis, but without constrictions, is also observed in the palmar-plantar keratodermia associated with deafness, in which, as in the case of mutating palmar-plantar keratoderma, there are keratotic foci on the rear of the hands and feet with a transition to the inner surface of the wrist joints.

Pathomorphology: hyperkeratosis with hypergranulosis.

Diffuse palmar-plantar keratodermia with autosomal dominant type of inheritance (gene dokas-17q23-ater) can be combined with esophageal cancer (Howel-Evans syndrome), keratosis develops usually at 5-15 years, esophageal cancer after 30 years. At the same time, multiple basal cells can be observed.

The keratoderma of the island of Meleda (blue sickness of the island of Melela) is inherited in an autosomal-repressive type. Clinically it is characterized by diffuse keratosis of the palms and soles, expressed by the inflammatory reaction in the form of the erythematous corolla around the keratotic foci with the exit of the lesion on the back surface of the hands and feet, the area of the knee and elbow joints, the lower third of the forearms and shins (in the form of "gloves and socks"). Contractures and fissures of fingers are frequent. A combination with pseudo-yngum is described. The disease is accompanied by hyperhidrosis and changes in nail plates, and leukokeratoses are also possible.

Pathomorphology. Electron microscopy reveals keratogialine granules of complex structure, consisting of a less dense granular core and a denser peripheral zone associated with tonofilaments. Such granules are more often located in epithelial cells located in the region of the mouths of the sweat glands.

Close on clinical manifestations to the disease of the island of Meleda keratoderma, described by A. Greither (1952). However, this form is inherited by autosomal dominant type, differs less pronounced hyperkeratosis, the presence of changes in other parts of the skin, similar to those observed in erythrokeratodermia, less severe course, improvement with age.

Keratoderma Papillon-Lefevre {syn. Papillon-Lefevre syndrome) is inherited in an autosomal recessive manner. The clinical picture is similar to the keratoderma of the island of Meleda. The defeat of the skin is combined with periodontal disease, inflammation of the gums and papillae of the tongue and exposure to various infectious diseases. Sometimes there is a lag in growth, hypotrichosis, calcification of the meninges, a combination with congenital bronchiectasis.

Pathomorphology: massive compact hyperkeratosis and hypergranulosis; in the erythematous-squamous foci in the region of large joints and the back surface of the hands and feet, the histological pattern resembles the red pityriasus hair follicle (Devergie's disease): hyperkeratosis with alternating areas of ortho- and parakeratosis, uneven acanthosis, insignificant perivascular infiltration in the papillary dermis.

The syndrome of Olmsted is a combination of diffuse palmar-plantar keratoderma with distinct edges, onychodystrophy, constriction of fingers and periorifficial keratosis. In addition to the listed characteristics, there are described universal alopecia, leukokeratosis, tooth anomalies.

Limited palmar-plantar keratosis is a collective term used for all limited (focal, linear) forms of keratoderma. Type of inheritance is autosomal dominant. Clinical manifestations of the disease can appear in adolescence or in adults. When large-focal forms of keratoderma on the palms and soles of the palms and soles are found, coin rounded keratotic foci, most pronounced at the pressure sites, and large, isolated or combined with linear keratoses foci in the area of the flexor surfaces of the fingers. There can be a combination with spiral curly hair. Electron microscopic examination revealed edematous epitheliocytes, an increase in the density of tonofilament in the suprabasal area, vacuolation of spiny cells, changes in the structure of keratogialin granules, and lipid droplets in the stratum corneum.

Papular palmar-plantar keratoderma differs in scattered character and smaller sizes of keratotic foci. They develop in the first years of life (Brauer's keratoderma) or at the age of 15-30 years (Buške-Fisher's keratoderma). Clinically characterized by multiple flat, hemispherical or verruzed foci of keratinization, rounded or oval outlines, usually located in isolation throughout the surface of the palms and soles, and not only in places of pressure. After removal of the horny masses, there remains a crater or saucer-like depression. A. Greither (1978) considers the listed forms of papular keratoderma identical.

Spot congenital acrokeratoderma (blue spotted keratosis of the palms and soles) is characterized by the appearance on the palms and the back of the hands of small keratotic papules of normal skin color with a smooth shiny surface. Histologically, FC Brown (1971) revealed parakeratotic posts similar to those observed with Mibelli's porokeratosis. DG Robestria et al. (1980) discovered intracerebral disorders in the form of multiple hypertrophied nucleoli in the cells of the basal and prickly layers, which, in the opinion of the authors, contribute to the development of hyperkeratosis. The combination of this disease with cancer of internal organs is described. MJ Costello and RC Gibbs (1967) consider papular and punctate keratoderma as synonyms.

Keratoderma with translucent papules is, perhaps, a kind of pinpoint congenital acrokeratoderma. It is also inherited in autosomal dominant type, characterized by yellowish-white, translucent papules with a smooth surface, sometimes with punctures in the center, merging into plaques. It is combined with thin hair on the head and atopy.

Point keratosis of palmar lines is characterized by the presence on the palms and soles of small hyperkeratotic plugs, located in the depressions of skin lines, painful when pressed.

Palmar-plantar keratoderma with twisted hair is an autosomal dominant inherited disease characterized by the presence of rounded foci of keratosis on the palms and soles. Pathological changes in hair are confirmed by scanning electron microscopy. In hair histochemically, there is a deficiency of cysteine.

Rnchner-Hanhart syndrome (syn: skin and eye tyrosinosis, type II tyrosinemia) is characterized by painful palmar-plantar keratotic foci, herpetiform dystrophia of the cornea and mental retardation. Without treatment, with age develops diffuse keratoderma, there may be blisters. The inheritance type is autosomal recessive, the gene locus 16q22.1-q22 is affected. Histologically, in addition to the common features for this group of keratoderma signs, eosinophilic inclusions are detected in the cells of the thorny layer. With electron microscopic examination, an increase in the number of tonofilaments in spiny-like epithelial cells, tubular channels and bundles of tonofilamentes is found. The basis of histogenesis is the deficiency of the enzyme tyrosine aminotransferase, which leads to the accumulation of tyrosine in the blood and tissues. It is assumed that the molecules of the L-tyrosine motif promote the formation of additional cross-links. This leads to a thickening of the tonofibrils in the epithelial cells.

The palmar-primed, numular keratodermia (the so-called painful calligraphy) is inherited by an autosomal dominant type. Develops in childhood or young age, characterized by the presence of limited large hyperkeratotic foci. Localized in places of pressure: on the soles. At the base and on the lateral surfaces of the toes, at the tips of the fingers, painful when pressed. Bubbles are described along the edges of the foci, subungual or perihotic hyperkeratosis, thickening of the nail plates and foci of hyperkeratosis on the shins. Histologically, zidermolytic hyperkeratosis is observed.

Acrokeratoelastoidosis of Costa develops in childhood. Clinically manifested as small, sometimes merging papules of a ptovnovatoy consistency, grayish color, translucent, with a shiny surface, located on the palms and soles, at the edges of the fingers, in the area of the calcaneal tendon. Histochemically, in the dermis in the lesions, thickening and fragmentation of plastic fibers are detected, electron microscopically - changes in the amorphous part of them, disruption of microfibrillation. Changes in the granular layer are absent.

It should be noted that a large group of palmar-plantar keratoderms is still not classified clinically or histologically. In the literature there are morphological descriptions of only individual cases. In this regard, diagnosis, especially differential, of these diseases presents great difficulties.

Differences in the clinical characteristics of rashes and the type of inheritance, the features of the course of diseases within the groups we have isolated allow us to suggest a different pathogenesis with a similar histological pattern.

[1], [2], [3], [4]