Hand - shyullera - Christian disease

Hand - shyullera - Christian disease (A. Hand, A. Schuller, N. A. Christian; synonym: lipogranulomatosis, lipidograms, X-retikulez, histiocytosis X, system reticuloendotheliosis) - a disease characterized by the classic triad of symptoms: multiple bone defects, exophthalmos, and polyuria. The disease is rare. It occurs mainly in children at the age from 1 year to 7 years, although the described cases of Hand - shyullera - Christian child 2 weeks and men 39 years. The value of heredity, gender, environmental factors in causing illness Hand - shyullera - Christian is not clear. There are instructions on the existence of several diseases in the same family.
Pathological anatomy. The essence of illness Hand - shyullera - Christian remains unclear. Some authors consider it the consequence of the primary disturbance of lipoid metabolism, in particular cholesterol-esters. Others consider it a form of retikulosarkomatose, related eosinophilic the granuloma and disease Letterer - Ziv.
The disease is characterized by the formation of granulomas composed of reticular cells, histiocytes, many of macrophages, polymorphonuclear leukocytes and eosinophils. Cells that absorb lipids, sharply increase in volume and become frothy appearance - the so-called Santanyi cells, very characteristic of the disease. There is a large number faguoqitirute giant multi-core cells.
In subsequent macrophages dissolved, lipids are deposited in tissues, and whole lesion sklerosiruta (organized). The preferential localization granulomas - skull bones (often arch, less jaw, the pyramid of the temporal bone, and others). May be affected and ribs, shoulders, pelvic bones, rarely vertebrae and long bones (shoulder, thigh).
Granulomatous lesions are localized in the spongy substance of the skull bones, bone marrow spaces spongy, medullar canal and the periosteum tubular bones (in the field of metamizol).
The most constant and the specific changes in the bones of the skull roof: the development of granulomas will destroy them with the formation of numerous small, and sometimes very large defects of fantastical outlines, filled with soft tissue growths of grayish colour. This defeat of the skull bones is indicated by Shulerom as "landkarten skull". The accumulation of granulomatous tissue at the base of the skull around the pituitary gland, especially in the area of the crater, may cause the development of diabetes insipidus, sometimes stunted growth, cachexia type of Simmonds, acromegaly, adipose-genital dystrophy. When ingrown granulomatous tissue in the eye-socket is developing exophthalmos, sometimes bilateral. Santanyi mass can be incorporated in the shells and the ventricles of the brain, and to investirovat the substance of the brain. In some cases, affected internal organs: liver, spleen, lymph nodes and often lungs, internal organs are formed such as granuloma, as in the bones.
The disease is progressing and death from disorders of the hypothalamus or diencephalons Department brain, lung-heart failure and intercurrent diseases.
Clinical course. The disease usually begins quietly, sometimes in the first few years or even months. First, children develop normally. Then, the child is thirsty (drink up to 5 litres and more), and accordingly it emits large amounts of urine is very low specific weight, without sugar, i.e. phenomena arise diabetes is the result of accumulation santonij cells on the base of the skull and the strangulation of the pituitary gland. The accumulation santonij formations of the eye sockets and eyeballs causes exophthalmos. When viewed on the head is detected, flooded or restricted various sizes painless swelling. When the feeling is determined sharply limited defects, which are formed as a result of the displacement of bone assemblages of reticuloendothelial cells. Most often these defects are located in scales of the temporal bone and swept along a seam. Rarely affects the bones of the chest, pelvis, spine. Tubular bones most often affects the hip, very rarely shoulder and tibia. Of the three characteristic signs of disease, the defeat bones is the most permanent.
Other signs: skin can purchase a jaundiced tint, there papular-pustular rash, which are based on the accumulation santonij cells in the skin depth in the course of the vessels. Rashes are often located symmetrically.
Almost always the disease occurs with hepato - splenomegaly and system lymph nodes. With the defeat of lungs arise cyanosis, dyspnea. Children become very irritable, whining, complaining of pain in his back and legs. Marked endocrine disorders - obesity, impaired growth, mental activity; adults - disorder of sexual function.
The disease is chronic. Without treatment, death with symptoms of anemia, multiple fracture bones, General exhaustion occurs within 3-4 years after the onset of illness. In the case of treatment of the disease occurs more slowly inhale for decades. In children of early age process, taking generalized form, flowing more acute and difficult.

Diagnostics of diseases Hand - shyullera - Christian children is hampered by the variability of symptoms and inconstancy of a triad of symptoms. The true prevalence of the process reveals x-ray examination. Here the bone defects are of different size. The skull has the form of maps ("landkarten").
The outlines of defects sharp, smooth (figure), sometimes melkodispersnye; in some cases around defects area rarefaction of bone tissue, and in between the centers of the seal. Depending on the disease defects increases or decreases, disappear. Of particular importance is the change of the Turkish saddle. In pictures visible demineralization back seat, its expansion and flattening, no back bone, deviation back ago.
In other bones, as in the bones of the skull, the size and degree of damage:
from the slight, barely noticeable rarefaction of bone prior to the formation of large rounded defects. In the tubular bones defects have the form of cystic formations or podperevalny foci. X-ray examination of the chest congestion santonij cells in the course of the bronchi has the appearance of peribronchial, interstitial pneumonia, pulmonary infiltrates. In some children, the disease is accompanied periodic increases in temperature to 38-39 degrees. When blood is found moderate anemia, average leukocytosis, eosinophilia to 8-13%, accelerated ROHE. Sometimes help in the diagnosis biochemical blood tests, which are lipoidemia, increase cholesterol.
The diagnosis Hand - shyullera - Christian classic cases of simple; in unclear cases can sometimes be supplied only on the basis of data biopsy or posthumously. In the initial phase of the disease is often diagnosed as osteomyelitis, tuberculosis, sarcoma, melanoma, myeloma, osteochondropathy, and so on; difficulties may provide for the diagnosis of cases of multiple eosinophilic granuloma (see). The system lymph nodes, liver and spleen requires exclusion inflammatory (specific and non-specific) processes, tumours, diseases caused by disturbance of lipoid metabolism (see Gaucher disease, Niemann - pick disease), leukaemia (see), chlamydia (see).
Treatment. Prescribed diet, poor cholesterol drugs pituitary gland, blood transfusions, antibiotics, steroid therapy and radiation treatment. Radiotherapy is not always accompanied by sustained success, because after rapid resorption of irradiated foci formation of new defects. Debilitating effects on the body diabetes insipidus made recently to start treatment with interstitial irradiation of the brain and the appendage of low-dose - 30-50-100 p 1-3 days and more, bringing the total dose of 200-400 R (K. A. Moskachev). Repeated exposure is carried out after receipt of the effect from the first course.
Radiotherapy, applied in a timely manner, shall suspend the development of local foci and delays the process generalization.
The prognosis is poor; possible spontaneous remission.

The baby's skull 3.5 years, suffering from disease Hand-shyullera-Christian: the outlines of defects in the parietal and occipital bone with a clear smooth contours.