Neurofibroma — a benign tumor from elements of an endoperineurium, schwannian cells; it is connected with covers of peripheral nerves in skin, hypodermic fatty tissue, soft tissues, a mediastinum, with roots of a spinal cord.
Frequency of development of a tumor — 1 on 3 — 4 thousand population. The neurofibromatosis of the I type is shown since the neonatality period to 5-year age. The neurofibromatosis of the II type is shown at the age of 10 — 20. Family cases are diagnosed for 40 — 50% of patients.
Neurofibromatosis of the I type, peripheral (illness of Recklinghausen). Neurofibromatosis of the II type, central (bilateral acoustic).
Etiology and pathogeny
The neurofibromatosis of the I type is caused by the mutant autosomal and dominant gene localized in a chromosome 17, having 100% penetrance. The neurofibromatosis of the II type is caused by a mutant gene in an autosome 22.
Clinical signs and symptoms
Tumors are localized on a trunk, extremities, is more rare on a face and a neck. Clinical options of a neurofibromatosis of the I type (according to V. V. Mordovtseva, 1995): • with domination of neurofibromas and a small nevus pigmentosus — large and small like freckles; • with a large nevus pigmentosus and not numerous neurofibromas; • with a nevus pigmentosus like freckles in combination with large spots without or with single neurofibromas; • the mixed option. Nevus pigmentosus more than 0,5 cm and plexiform neurofibromas arise since the birth or by the end of the 1st year of life. Knotty elements develop in an interval of 10 — 20 years.
The diagnosis and the recommended clinical trials
At multiple forms the diagnosis is made on the basis of clinical manifestations. At solitary educations the ekstsizionny biopsy is shown. At early stages shvannopodobny cells in the form of chaotic accumulations of cellular elements of 2 types — an oval form with a roundish kernel and eosinophilic cytoplasm and cells of the extended form with a spindle-shaped kernel dominate. In it is long the existing tumors at an intermediate stage numerous cells are located in the form of strips; in an inactive stage fibroblasts and to a lesser extent cells of schwannian type among sites of the expressed fibrosis dominate.
Fusocellular thermal nevus, multiple leiomyoma, mesenchymal malformations of skin.
General principles of treatment
Solitary tumors depending on the size subject to electroexcision, surgical excision. At multiple tumors appoint synthetic retinoids: Atsitretin in 50 — 75 mg 1 r / days, 4 — 11 weeks.
Assessment of efficiency of treatment
Efficiency of treatment is confirmed by data of clinical and laboratory trial, including data on growth and the sizes of a tumor, an involvement of other fabrics and existence of metastasises (at malignant tumors), recurrent tumors after its removal.
Complications and side effects of treatment
Ointment with ftoruratsily can cause disturbances of regeneration of skin, nails, hair. Drugs of interferon are capable to cause slackness, fever, joint pains, skin allergic reactions. Klobetazol at topical administration is capable to cause a skin atrophy, weakening of its barrier function. Perhaps systemic action at absorption of drug through skin.
Mistakes and unreasonable appointments
For the prevention of an ozlokachestvleniye traumatization of the centers of defeat, excess insolation, excess use of the irritating substances is not recommended. Atsitretin is incompatible with tetracyclines, a methotrexate, other retinoids.
At solitary defeats — favorable. Complications of a disease — an ozlokachestvleniye of tumors, especially plexiform neurofibromas.