neurofibromatosis

TYPE 1
Morbus von Recklinghausen, or Recklinghausen disease, is the most common peripheral type of neurofibromatosis (so-called Type 1). This serious but relatively uncommon condition is an autosomal dominant inherited disorder in which neurofibromas form under the skin and sometimes also in internal organs. Neurofibromas are benign tumors arising from the sheaths of nerve fibers—Schwann cells—and appear as subcutaneous nodules. As they grow, they may compress nearby nerves, blood vessels, and other important tissues. Neurofibromas also have a predisposition to malignant transformation or association with both benign and malignant tumors. The disease has highly variable expression.

Manifestations:
so-called “café-au-lait spots” (light brown “coffee-with-milk” skin patches due to pigment accumulation; present in about 90% of patients by age 5)
neurofibromas (multiple tumor-like nodules in the skin and subcutaneous tissue, especially in the axillae and groin)
Lisch nodules (hamartomas of the iris)
increased risk of various tumor diseases
central nervous system gliomas (including optic nerve gliomas – n. opticus, etc.), brain tumors
neurofibrosarcomas
rhabdomyosarcomas
pheochromocytoma
leukemia, etc.

musculoskeletal system involvement – subperiosteal neurofibromas affecting bone, causing bone thinning, pathological fractures, scoliosis, and congenital dysplasia (underdevelopment) of the tibia (shin bone)
 back pain, spinal curvature, and gait disturbances
 intellectual impairment
 epilepsy
 renal artery stenosis (narrowing of kidney arteries)
 visual impairment or blindness (due to optic nerve glioma)
 speech disorders
 scoliosis of the spine
 abdominal pain, vomiting, sometimes diarrhea or constipation
 headaches
 abnormal cerebral blood vessels
 learning disabilities
 mental retardation
 hypertension
 skin spots and freckles in skin folds (under the breasts, in the armpits, between the buttocks, etc.)
 early or delayed puberty
 short stature
 poor school performance
 skin itching

TYPE 2
It is much rarer than type 1 neurofibromatosis, occurring about 10 times less frequently. It is caused by a mutation on chromosome 22.

Manifestations:
neurinomas of the acoustic nerve (benign tumor affecting the auditory nerve) – dizziness, nausea, tinnitus (ringing in the ears), and hearing loss already in young adulthood
occurrence of brain tumors and spinal cord tumors – meningiomas
epileptic seizures, movement and sensory disturbances in parts of the body, urinary incontinence, personality changes, dementia, etc.

Diagnosis:
Genetic testing can be performed prenatally, especially in families with a higher frequency of neurofibromatosis. Patients with neurofibromatosis are regularly monitored for early detection of tumors, which can be identified using imaging methods (ultrasound, CT, MRI) and clinical examination.

Treatment:
Treatment is symptomatic. In cases of increased tumor growth, tumors may be surgically removed for cosmetic reasons or when they compress important tissues. In the case of brain tumors, neurosurgical intervention is considered, or targeted irradiation using a Leksell Gamma Knife may be used. If malignant tumors develop, standard oncological treatment is applied, including surgery and chemotherapy.

• depends on the type (1, 2)