Neurofibromatosis: symptoms and treatment


Neurofibromatosis is a predominantly hereditary disease characterized by the formation of tumors in the neural tissue, which subsequently provokes the appearance of various types of bone and skin anomalies. It is noteworthy that neurofibromatosis, the symptoms of which occur both among men and women with the same frequency, often manifests itself in childhood, and in particular — during puberty.

General description of the disease

Neurofibromatosis, or Recklinghausen’s disease, belongs to the autosomal dominant group of diseases, while it is caused by the spontaneity of the mutation occurring in a particular gene. It should be noted that in the absence of neurofibromatosis, the mutation of the gene can provoke the onset of the formation of the tumor process.

Neurofibromas as neoplasms are benign tumors that form along the nerve trunks and their branches. Their development begins with the second decade of life. As a rule, they are plural in their manifestations, their location is concentrated in the skin or in the subcutaneous fat (possible complex concentration in both sites).

Neurofibromatosis: Symptoms

As we have already noted, mainly the disease occurs in childhood. His clinical picture as a whole is characterized by manifestations in the form of neurofibroma and skin pigmentation.

The earliest sign of the disease is the appearance of multiple small oval pigment spots. They have a smooth surface, color — yellowish-brown (otherwise you can define it as «coffee with milk»). The location of the spots is mainly concentrated in the area of ​​the trunk, inguinal folds and axillary depressions. Age changes affect the increase in the number of spots and their size.

The second characteristic symptom is the formation of a neurofibre, which can be subcutaneous or / and cutaneous. These formations have the form of hernial protrusions, the diameter of which may be of the order of several centimeters. In addition, they are painless in nature. Palpation of tumor-like neoplasms is characterized by the failure of the finger «into the void.»

In some cases, diffuse neurofibromatosis is formed, which is characterized by excessive growth of subcutaneous tissue and connective skin tissue along with the formation of tumors of giant dimensions. Along the stroke of the nerve trunks, there are also plexiform neurofibromas (that is, neurofibromas concentrated along the cranial nerves, the nerves of the extremities and the neck). Most often, they are transformed into malignant schwannomas (neurofibrosarcomas). It is noteworthy that the area of ​​formation of the neurofibrom is often characterized by violations of certain types of sensitivity.

Subjective sensations are itching, paresthesia (sensation of numbness, «goosebumps», tingling without the previous stimulus effect in a particular area), pain.

To date, neurofibromatosis, the symptoms of which have their own specifics, how the diagnosis is established if there are two or more of the following:


  • The appearance of stains of the characteristic color of «coffee with milk» in an amount of 6 or more pieces with their diameter exceeding 5 mm for puberty and more than 15 mm for post-pubertal age
  • The appearance of a neurofibre in the number of two or more pieces of any type, or the appearance of a single plexiform neurofibroma
  • Occurrence of small pigmentation spots that resemble freckles in the area of ​​inguinal and axillary folds
  • Formation of glioma of the optic nerve (a slowly formed primary tumor of a benign nature that develops in the trunk of the optic nerve)
  • The appearance of two or more Lita nodules (pigmented iris gamratrom)
  • Dysplasia in the wing of the wedge-shaped cranial region, or thinning in the area of ​​the cortical layer of bones tubular type, with or without pseudoarthrosis
  • The presence of a diagnosis of neurofibromatosis among relatives representing a first degree of kinship

A variety of tumorous formations can be noted in the area of ​​the oral cavity and spinal roots, as well as from the inside of the skull, which is revealed due to the corresponding symptomatology. Often this disease occurs in combination with pathologies formed in the locomotor apparatus, as well as with pathologies of the cardiovascular, endocrine and nervous systems.

Neurofibromatosis: symptoms of the typology of the disease

The main skin symptoms of the disease I type are manifested in the form of pigment spots and neurofibroma. The earliest symptom is pigmented spots of the specified color of «coffee with milk» of a congenital or acquired character (formed soon after birth). In the axillary cavities, as well as in the inguinal folds, mainly formations in the form of pigment spots as freckles. As for the neurofibromus, they are usually of a multiple nature, they are formed closer to the second decade of life. They can have the usual color peculiar to the skin, they can also be brownish or pinkish-bluish in color.

In relation to the previously described plexiform neurofibromas, they are tumorous diffuse sprouting along the course of the nerve trunks. Predominantly the nature of their education is innate. The surface of this type of formation can be in the form of lobed massive tumors, which may hang sack-like at the same time.

When palpation is defined by a sinuous type of nerve trunks, subjected to thickening. As a guide to the presence of neurofibromas of this type, pigmented spots of considerable size covered with hair covering, especially those that cross the median line of the body, can act. More often plexiform neurofibromas become malignant, which leads to the development of neurofibrosarcoma.





type II neurofibromatosis (central) occurs due to the absence of schwannoma (the primary product formed by the gene). Presumably, it is he who accompanies the inhibition of tumor growth, which occurs at the cellular-membrane level. In this case, manifestations are minimal (pigmented lesions are observed in about 42% of the total number of patients, while neurofibromas are formed in 19% of them). For this type of disease is characterized by the formation of painful lesions in the form of mobile and dense tumors (neurin). Almost in all cases, there is a development of a bilateral neurinoma touching the auditory nerve, which is accompanied by hearing loss occurring at the age of about 20-30 years.

Type II neurofibromatosis is diagnosed in the presence of such confirmatory criteria as:


  1. bilateral neuroma in the auditory nerve (confirmed radiologically);
  2. the relatives have a first-of-kin relationship with the diagnosis of a bilateral neuroma of the auditory nerve
  3. one-sided neurinoma of the auditory nerve;
  4. the presence of neurofibroma plexiform or two other types of tumors: meningioma, neurofibroma, glioma (regardless of their location);
  5. the presence of any tumor of the cerebrospinal or intracranial type.

type III of the disease (mixed) suggests the presence of rapidly progressive tumors in the central nervous system, with the beginning of their development occurring in the period of 20-30 years. As a diagnostic criterion of the disease in this case, the presence in the palm region of the neurofibre. It is due to their presence here that it becomes possible to differentiate a disease different from its type II.

The variant, IV type disease differs from the central (II) type by the presence of a larger number of cutaneous neurofibromas. In addition, in this case there is a serious risk of development of such formations as glioma of the optic nerve, meningioma and neurolemmy.

Neurofibromatosis V type is segmental, the lesion is one-sided in the form of pigment spots and / and neurofibre, and the lesion can affect any skin segment or part of it. This type of the general clinical picture is similar to hemyhypertrophy. For VI type , the absence of a neurofibre is inherent, only pigmentation in the form of spots is detected. The type VII disease is characterized by its late onset, with neurofibromas occurring after reaching the age of 20 years.

Among common symptoms, the possible manifestations are pain or, conversely, anesthesia (lack of sensitivity), paresthesia and skin itching. In some cases, paresis (partial paralysis, restriction in arbitrary and involuntary movements of a particular muscle group) is possible. The defeat of the underlying bones in the area where the plexiform neurofibroma is located may provoke the asymmetry of the limbs or face.

Neurofibromatosis: treatment

There are no radical methods aimed at treating this disease. Medications used in practice, which contribute to a certain normalization in metabolic processes affected by disturbances. As for cosmetic defects that cause tumor processes, their elimination is made exclusively by surgery.

With regard to the definition of methods of treatment and its course, we note that they are based on the overall picture of the disease. For its diagnosis and consider the need for the intervention of several specialists: genetics, ophthalmology, neurology, dermatology and infectious diseases

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