Pachiderma

Pachidermoperiodosis (Greek pachus - thick, dense, derma - skin and periostosis - non-inflammatory change of the periosteum) is a disease whose leading sign is a massive thickening of the skin of the face, skull, hands, feet and distal sections of long tubular bones. In 1935 the French doctors N. Touraine, G. Solente and L. Gole first identified pachidermoperiodosis as an independent nosological unit.

Causes of the pachiderma

The causes and pathogenesis of pachydermoperiodosis have been little studied at present. It is known that pachidermoperiodosis is a hereditary disease with an autosomal dominant type of inheritance with variable expressiveness, usually manifested in the post-pubertal period. Family forms are also described. The ratio of patients among men and women is 8: 1. Pakhidermoperiodosis is a rare hereditary disease. The first signs of the disease appear during puberty, and the complete symptom complex is formed by 20-30 years.

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Pathogenesis

Morphologically, the disease is characterized primarily by the massive expansion of fibrous structures of the dermis and subcutaneous tissue with a pronounced growth of fibrous connective tissue in the underlying, which determines the intimate skin adhesion with them. Fibrous hyperplasia also occurs in the wall of the blood and lymphatic vessels of the dermis; lumens of such vessels usually "gap"; some of them are thrombosed. There is a significant increase in the number of mature sweat and sebaceous glands, sometimes hyperplasia and / or hypertrophy of the glandular cells that form them. In the skin there are chronic inflammatory infiltrates, secondary hyperkeratosis, acanthosis are also observed. The phenomena of fibrosis are observed in the aponeurosis and fasciae.

In the bones of the skeleton, especially the tubular, large and small, there is periosteal ossification - a diffuse layering of the osteoid tissue onto the cortical substance. It can reach 2 cm or more in thickness or is limited in the form of an osteoma. This process spreads both endostally and periosteally. Sometimes there is a fibrous thickening of the periosteum, a violation of the architectonics of the bone. An immature bone substance is often found. There is a desolation of blood vessels that feed bone tissue. In joints - hyperplasia of integumentary synovial cells and a pronounced thickening of the walls of small, subsidioviral blood vessels due to fibrosis. Fibrosis of the walls of blood vessels, especially the blood vessels, can occur in internal organs.

The epidermis is little changed, the dermis is thickened due to the increase in the number of collagen and elastic fibers, proliferation of fibroblasts, small perivascular and perifollicular lymphohistiocytic infiltrates, widening of the hair follicles with accumulation of horny masses, hyperplasia of the sebaceous, sometimes simultaneously sweat glands.

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Symptoms of the pachiderma

This disease is relatively rare. His clinic, diagnosis and treatment are little known to a wide range of endocrinologists. A significant proportion of patients with pachydermoperiodosis are mistakenly diagnosed with acromegaly, which leads to the use of inadequate medical measures. In this regard, it is advisable to present the clinic, modern methods of diagnosis and treatment of pachydermoperiodosis.

Clinical symptoms in women are much less expressed, but there are patients with complete form and severe course of pachydermoperiodosis. The onset of the disease is gradual. The clinical picture completes its development in 7-10 years (active stage), after which it remains in a stable state (inactive stage). Typical complaints with pachidermoperiodosis are a marked change in appearance, increased greasiness and sweating of the skin, a sharp thickening of the distal parts of the limbs, an increase in the size of the fingers and feet. Appearance changes due to ugly thickening and wrinkling of the skin of the face. Expressed horizontal folds on the forehead, deep furrows between them, increase in the thickness of the eyelids give the person an "old expression". The folded pachydermia of the scalp with the formation in the parietal-occipital region of moderately painful, coarse skin folds resembling the cerebral convolutions, cutis verticis gyrata, is characteristic. The skin of the feet and hands is also thickened, rough to the touch, soldered to the underlying tissues, does not lend itself to displacement and compression.

Production of sweat and sebum significantly increases, especially on the face, palms and plantar surface of the feet. It has a permanent character, which is associated with an increase in the number of sweat and sebaceous glands. Histological examination of the skin reveals its chronic inflammatory infiltration.

With pachidermoperiodosis, the skeleton is changed. Because of the layering of the osteoid tissue, the cortex of the diaphysis of the long tubular bones, especially of the distal parts, of the forearm and shin of the patients is enlarged in volume and has a cylindrical shape. A similar symmetrical hyperostosis in the metacarpal and metatarsal regions, phalanges of the fingers and toes leads to their growth, the fingers of the hands and feet clavate thickly, deformed like "drumsticks." Nail plates have the form of "watch glass".

A significant part of patients have arthralgia, ossalgia, hip, knee, less often ankle and wrist arthritis. Articular syndrome is associated with mild hyperplasia of integumentary synovial cells and a strong thickening of small, subsidioviral blood vessels and their fibrosis. He does not differ in gravity, rarely progresses and limits the ability to work of patients only with severe articular syndrome, which happens infrequently.

In 1971, J. V. Harbison and SM Nice identified 3 forms of pachidermoperiodosis: complete, incomplete and truncated. In full form, all the main signs of the disease are expressed. In patients with incomplete form there are no cutaneous manifestations, truncated - symmetrical periosteal ossification.

Grotesque appearance, persistent sweating and greasiness of the skin adversely affect the mental status of patients. They are closed, focused on their feelings, secluded from others.

Diagnostics of the pachiderma

When diagnosing pachidermoperiodosis, it is necessary to take into account the form and stage of the pathological process. Along with the typical complaints and the appearance of the patients, the most informative is the x-ray study. Radiographs of diaphysis and metaphysis of tubular bones reveal assimilated hyperostosis, reaching 2 cm or more. The external surface of hyperostosis is fimbriated or acicular. The structure of the bones of the skull is not changed. Turkish saddle is not enlarged.

Scintiscanalization of bones with methylene diphosphonate  ⁹⁹ Tc reveals a linear pericortical concentration of the radionuclide along the larger and fibular, radial and ulnar bones, as well as in the metacarpal and metatarsal regions, the phalanges of the fingers and feet.

The results of  thermography, plethysmography and capillaroscopy indicate an increase in the rate of blood flow and tortuosity of the capillary network, an increase in temperature in the thickened terminal phalanges of the fingers. The similarity of clinical manifestations and anatomical findings in pachidermoperiodosis and Bamberger-Marie syndrome suggests a common pathogenetic mechanism. In the early (active) stage of pachidermoperiodosis, the vascularization and temperature of the distal parts of the fingers are increased, that is, local activation of the metabolism takes place. His similar increase was noted in the Bamberger-Marie syndrome in those areas where there is visible excess tissue growth. In the late (inactive) stage, obstruction and insufficiency of the capillary network, unevenness of the contours of the capillary loops, which leads to a decrease in the blood flow velocity in the terminal phalanges of the fingers and the cessation of their further increase. Similar changes occur in the period: the maximum vascularization in the early stage of the disease and relative devascularization - in the late.

General blood tests,  urine tests, basic biochemical indices in patients with pachydermoperiodosis within normal limits. The level of tropic hormones of the pituitary gland, cortisol, thyroid and sex hormones is not changed. The reaction of growth hormone to glucose load and intravenous tyroliberin are absent. Some studies mention an increase in the urine content of estrogen, which, according to the authors, is associated with a violation of their metabolism.

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Differential diagnosis

Pachidermoperiodosis should be differentiated from acromegaly, Bamberger-Marie syndrome and Paget's disease. With Paget's disease (deforming osteodystrophy), the proximal sections of tubular bones with rough trabecular bone reshaping are selectively thickened and deformed. The disease is characterized by a decrease in the facial skeleton and a significant increase in the frontal and parietal bones that form the "tower" skull. The size of the Turkish saddle is not changed, there is no growth and thickening of soft tissues.

The most relevant is the differential diagnosis of pachidermoperiodoza and acromegalia, since with erroneous diagnosis of acromegaly, irradiation of the intact interstitial-pituitary region leads to the loss of a number of tropic functions of the adenohypophysis and further aggravates the course of pachydermoperiodosis.

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Treatment of the pachiderma

Etiopathogenetic treatment of pachydermoperiodosis has not been developed. Cosmetic plastic surgery can significantly improve the appearance of patients and thereby their mental status. In some cases, a good effect is observed with local (phono or electrophoresis on the damaged skin) and parenteral use of corticosteroids. In complex therapy, it is necessary to include preparations that improve trophic tissue (andecalin, komplamin). In recent years, laser therapy has been used successfully for treatment. In the presence of arthritis, non-steroidal anti-inflammatory drugs are highly effective: indomethacin, brufen, voltaren. Radiation therapy in the interstitial-pituitary region is not contraindicated in patients with pachydermoperiodosis.

Forecast

The prognosis for the recovery of patients with pachydermoperiodosis is unfavorable. With rational treatment, patients can maintain their ability to work and live to their old age for a long time. In some cases, due to the severity of the joint syndrome, there is a permanent loss of ability to work. Special methods for the prevention of pachydermoperiodosis are absent. They are replaced by thorough medical genetic counseling of families of patients.

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