Recklinghausen’s disease is also called neurofibromatosis type I.

The term “neurofibromatosis” includes a number of genetic diseases affecting the cellular development of neuronal tissues. There are two types of neurofibromatosis: type I and type II. These two forms, however, have similar characteristics and are caused by mutations in different genes.

Type I neurofibromatosis is neurodermal dysplasia, an abnormality in the development of neuronal tissue. This pathology was first described in 1882 by Friederich Daniel Von Recklinghausen, hence the current name of this pathology.

Alterations in neuronal tissue appear from embryonic development.

Type I neurofibromatosis is the most common form of neurofibromatosis with 90% of cases being type I. It is also one of the most common human genetic diseases with prevalence (number of cases in a given population, at a time given) amounting to 1/3 births. Moreover, no predominance was noted between men and women. (000)

Recklinghausen’s disease is an inherited genetic disease in which the mode of transmission is autosomal dominant. Or, which affects a non-sexual chromosome and for which the presence of only one of the two copies of the mutated gene is sufficient for the subject to develop the disease. This disease is the consequence of alterations in the NF1 gene located on chromosome 17q11.2.

The characteristics of the disease are defined through: (2)

– “café-au-lait” colored buttons;

– optic gliomas (tumors at the level of the ocular nerve roots);

– Lish nodules (hematomas pigmenting the iris of the eyes);

– neurofibromas of the spinal and peripheral nerves;

– neurological and / or cognitive impairment;

– scoliosis;

– facial abnormalities;

– malignant tumors of the nerve sheath;

– pheochromocytoma (malignant tumor located in the kidneys);

– bone lesions.

Recklinghausen’s disease affects the skin and the central and peripheral nervous system. Primary associated symptoms usually appear in childhood and may affect the skin as follows: (4)

– “café au lait” colored skin spots, of different sizes, different shapes and which can be found at any level of the body;

– freckles developing under the arms and in the armpits;

– the development of tumors in the peripheral nerves;

– the development of tumors in the nervous network.

Other signs and symptoms can also be significant of the disease, these include:

– Lish nodules: growth affecting the eyes;

– a Pheochromocytoma: tumor of the adrenal gland, of which ten percent of these tumors are cancerous;

– enlargement of the liver;

– a glioma: tumor of the optic nerve.

The disease’s impact on bone development includes short build, bone deformities, and scoliosis. (4)

Recklinghausen’s disease is an inherited genetic disease of the autosomal dominant form. Either which concerns a non-sexual chromosome and for which the presence of only one of the two copies of the mutated gene is sufficient for the development of the disease.

The disease is caused by a number of mutations in the NF1 gene, located on chromosome 17q11.2. It is one of the most common spontaneous mutations among all human genetic diseases.

Only 50% of patients with the mutated NF1 gene have a family history of disease transmission. The other part of the patients concerned have spontaneous mutations in this gene.

The expression of the disease is highly variable from one individual to another with a panel of clinical manifestations that can range from mild to much more severe complications. (2)

The risk factors for developing the disease are genetic.

Indeed, the disease is transmitted by a transfer of the mutated NF1 gene according to the autosomal dominant mode.

Either the mutation in question concerns a gene located on a non-sexual chromosome. In addition, the presence of only one of the two copies of the mutated gene is sufficient for the disease to develop. In this sense, an individual of whom one of his parents has the phenotype of the disease has a 50% risk of developing the pathology himself.

The diagnosis of the disease is first of all differential, especially in relation to the presence of certain characteristic symptoms. The primary objective of the physician is to rule out all possibilities of other diseases involved in these clinical manifestations.

These diseases, the symptoms of which strongly resemble those of Recklinghausen’s disease, include:

– Leopard syndrome: a genetic disease whose symptoms also cover brown spots on the skin, an enlarged space between the eyes, narrowing of the coronary artery, hearing loss, a small build and abnormalities in the heart’s electrical signals ;

– neurocutaneous melanoma: a genetic disease causing the development of tumor cells in the brain and spinal cord;

– schwannomatosis, a rare disease causing the development of tumors in the nervous tissue;

– Watson’s syndrome: a genetic disease also leading to the development of Lish’s nodules, a small build, neurofibromas, an abnormally large head and narrowing of the pulmonary artery.

Additional examinations then make it possible to confirm or not the disease, this is in particular the case of MRI (Magnetic Resonance Imaging) or even the scanner. (4)

In the context of a complex disease, its treatment must be administered to the different parts of the body concerned.

Treatments prescribed in childhood include:

– assessment of learning abilities;

– evaluation of possible hyperactivity;

– treatment of scoliosis and other remarkable deformities.

Tumors can be treated by: (4)

– laparoscopic removal of cancerous tumors;

– surgery to remove tumors affecting the nerves;

– radiotherapy;

– chemotherapy.