NEUROFIBROMATOSIS (neurofibromatosis; Greek neuron nerve + lat. fibroma, fibromatis fibroma + - osis; synonym: disease of Recklinghausen, multiple nevrinomatoz, neuroma falsum) — the tumoral disease which is characterized by formation of multiple neurofibromas and nevus pigmentosus of hl. obr. on skin and mucous membranes, followed by neurologic, mental, hormonal and bone disturbances.
For the first time as an independent disease it is described in 1882 by F. Reklingkhauzen.
At N. all fabrics and bodies can be surprised, but skin, hypodermic cellulose, neuroplexes, including intermuscular (meyssnerovo) and submucosal (auerbakhovo), nervous trunks and roots is more often. Usually nodes H. are located on a trunk, a neck and extremities (fig. 1), is rare — on soles and palms, a mucous membrane of an oral cavity; even less often bones and hemadens are surprised. Men get sick approximately twice more often than women. Sometimes the disease has hereditary or family character and affects members of the same family in 3 — 5 generations. Quite often at N. find various inborn malformations, weak-mindedness, an acromegalia, a vision disorder and hearing, a rachiocampsis, etc.
The etiology is not found out. Most of authors adhere to the theory of a dizontogenetichesky origin of P., others connect N. with dysfunction of a thyroid gland, adrenal glands, etc.
At N. find multiple, sometimes up to 5 — 7 thousand, various form neurofibromas (see) or is more rare neurinoma (see) from 2 mm to several centimeters in the diameter; sometimes tumors weighing up to 15 kg meet. Quite often multiple nodes are located on the course of a nerve and its branchings that creates a picture of a so-called plexiform neuroma (fig. 2). Its version is the slonovopodobny form H. (fig. 3) which is characterized by the expressed hyperplasia and a hypertrophy of a derma.
At gistol, a research of remote nodes find a picture of the encapsulated or diffusion neurofibroma. The encapsulated neurofibromas are formed, as a rule, in large nervous trunks, diffusion arise in smaller (thermal) nervous branches. The growing nodes H. are formed by the proliferating peri-and endoneural connective tissue cells developing in friable nezhnovoloknisty bunches to-rye are painted in pink color by fuchsin. Stable (mature) nodes H. are characterized by reduction of quantity of a schwannian sincytium, the collagenic skeleton of nervous bunches is condensed and hyalinized — the tumor becomes histologically indistinguishable from fibroma (see. Fibroma, fibromatosis ) or desmoid (see). In the nodes which are localized on skin there can be structures reminding touch corpuscles (Meyssner) or lamellar little bodies (Fatera — Pachini).
Nevus pigmentosus from light-beige till dark brown color usually reveals on skin of a trunk and extremities, is more rare on a face, a neck, a mucous membrane of an oral cavity. They have a smooth surface, do not act over the level of skin. At gistol, a research of a nevus pigmentosus find diffusion accumulation in a papillary layer of a derma of melanoblasts, melanocytes with inclusions of melanin in cytoplasm.
At N. often note atrophic and destructive changes of bones, in some cases there are bone exostoses. Changes of bones at N. are connected with the general trophic frustration, and also with pressure upon a bone of tumoral nodes.
A clinical picture
the First wedge, symptoms of a disease are found at once after the birth or at children's age, but can arise for the first time and at adults. They are connected generally with emergence on skin, in hypodermic cellulose and on the course of nervous trunks of tumoral nodes. In nek-ry cases in the field of defeat there can be zones of anesthesia or a hyperalgesia, spasms, paresis, paralyzes are seldom observed. At patients quite often note the noncritical attitude towards themselves and people around. Children, sick N., lag behind in physical and intellectual development.
At damage of a spinal cord and its roots in a wedge, a picture symptoms of a prelum of a spinal cord with early paralyzes and paresis according to the struck segments prevail. The prelum of vitals (e.g., at localization of nodes in a neck and in a mediastinum) can cause disturbances of their function: the prelum of respiratory tracts is followed by the accruing difficulty of breath, a prelum circulatory and limf, vessels leads to local disturbance of blood circulation, I will swell, etc. Multiple tumoral nodes, especially on the lower extremities, can create a picture of neurofibromatous elephantiasis as a result of disturbance of a lymph drainage.
On preferential localization of defeat distinguish focal, peripheral and central forms N. At a focal form one of areas of a body, napr, a trunk, or one body, napr, a stomach is surprised. The peripheral form is characterized by defeat of several areas of a body. The central form H. results from primary damage of a brain.
At a malignancy one of nodes H. progressively increases in sizes, under skin the krupnopetlisty network of expanded veins, a smeshchayemost of a tumor at a palpation appears through limited. Further there can come the ulceration of a node with disintegration and bleeding.
Diagnosis establish on the basis of the anamnesis, a wedge, pictures, data rentgenol, p morfol, researches.
Rentgenol, the research is sent to hl. obr. on identification of damages of a skeleton it is also applied generally to more omnibus estimate of prevalence and expressiveness of process. Deformation of a backbone in the form of scoliosis and a kyphoscoliosis of chest department is characteristic of the expressed N., regional defects of bodies of vertebrae, their joint and cross shoots, expansion of intervertebral foramens and an erosion of their edges, uzura of bottom edges of back departments of edges caused by pressure of neurofibromatous nodes are possible.
Long tubular bones can be atrofichny, curved, sometimes, on the contrary, hypertrophied, reinforced (fig. 4).
Compact substance in a hypertrophied bone is thickened. On the surface of a bone periosteal crests are visible, also the paraothers sometimes are found ossification, going parallel to bone surfaces. The intra bone neurofibromatous nodes which are found sometimes in tubular bones look as limited swellings and cystic educations.
During the involvement in patol, process of bones of a skull is found its asymmetry, especially on a face. In bones of a calvaria defects and uzura, sites of an osteanabrosis or phenomenon of a hyperostosis are possible. Eye-sockets are asymmetric, in their bone walls defects can be also found.
In case of damage of cranial nerves their bone channels, napr, internal acoustical pass of temporal bones or an opening of an optic nerve extend. In some cases the Turkish saddle increases. The isolated damage of joints as the deforming arthrosis is sometimes observed.
Treatment operational. Indications for it are sharp morbidity or an ulceration of a tumor, difficulty of movements, a prelum or shift of vitals. In nek-ry cases resort to operational treatment with the cosmetic purpose. As defeats multiple, removal of all changed fabrics, as a rule, is not possible.
At operational treatment of a slonovopodobny form H. there is a need of the subsequent skin plastics (see). Neyrofibromatoz-naya fabric is plentifully supplied with blood vessels, their bandaging during operation shall be especially careful. At an arrangement of a node in a large nervous trunk make enucleating of a tumor, a cross resection of a nerve with imposing nervous seam (see) or its regional resection with imposing of a partial nervous seam. Operational removal of one of nodes in some cases can lead to progressing of process with sharp increase in the sizes of other nodes.
Forecast, as a rule, favorable. The malignancy comes seldom. Working capacity at a focal form H. usually does not suffer, at widespread defeat — sharply decreases.
Prevention: in order to avoid N.'s progressing it is recommended to avoid accidental traumatization of tumoral nodes; sick N. shall not be exposed to excessive insolation and overtire.
Bibliography: Varava B. of H., To and e of m R. I. and Moroz A. Yu. Complications of a neurofibromatosis, Vestn, hir., t. 114, No. 3, page 118, 1975; Volkov A. A. About disturbances of mentality at a disease Reklingauzena, Zhurn, a neuropath, and psikhiat., t. 60, century 7, page 887, 1960; Glazunov. T. Chosen works, JI., 1971; About l ov and D. I N; Atlas of tumors of the person, JI., 1975; Dmitriyev V. S. Nevrofibromatoz of the person (disease Reklingauzena), Works Center, in-that usovershenstvo. doctors, t. 64, page 101, M., 1963; Reynberg S.A. Radiodiagnosis of diseases of bones and joints, book 2, page 380, M., 1964; Savitsky V. A. and Cherepanov A. N. Neyrofibroma-toz Reklingauzena, M., 1972; In about f i p-g e r H. Uber das Problem der sarkomatosen Entartung bei der Neurofibromatose v. Recklinghausen, Arch. Geschwulstforsch., Bd 9, S. 273, 1956; With h an o u a t Y. Les lesions osseuses de la neurofibromatose de Recklinghausen, Rhumatologie, t. 16, p. 263, 1964; H u n t J. P u g h D. Scele-tal lesions in neurofibromatosis, Radiology, v. 76, p. 1, 1961; Levin B. Neurofibromatosis, clinical and roentgen manifestations, ibid., v. 71, p. 48, 1958; Recklinghausen F.D. tiber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen, B., 1882; S with h a 1-1 e r K. F. u. S e r i e C. Neurofibromatosis Recklinghausen Lepra Lepromatosa, Z. Haut-u. Geschl. - Kr., Bd 22, S. 10, 1957; Virchow R. tiber einen Fall von vielfachen Neuromen, Virchows Arch, path. Anat., Bd 12, S. 114 1857.
P. A. Melnikov; V. V. Kitayev (rents.).