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Von Recklinghausen's disease
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This
autosomal dominant genetic disorder is characterized by abnormalities of both the nervous system and skin. An affected parent will pass neurofibromatosis on to half of his/her offspring. Both sexes are equally affected. Neurofibromatosis is classified as type 1(NF-1) and type 2 (NF-2).
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- Neurofibromatosis type 1:
- Tan spots, which called cafe au-lait spots, are often present on the skin, especially on the trunk and extremities at birth, and increase in size, number, and pigmentation with age.
- Five or more cafe au-lait spots over 5 mm in greatest diameter in prepubertal patients
- Six or more cafe au-lait spots over 15 mm in postpubertal patients
- Yellowish or brownish spots that are 2-3 mm in diameter in the groin and in the underarm area
- Two or more small and rubbery lumps called neurofibromas may appear under the skin or deeper, especially during adolescence or pregnancy. Overlying skin is slightly purplish and discolored.
- One type of lump called plexiform neurofibroma, a diffuse thickening of nerve truck, is present at birth in the orbital or temporal region of the face. Overlying skin is hyperpigmented. It can cause overgrowth of an extremity and a deformity of the bone.
- Two or more small brown lumps called Lisch nodules appear on the iris in more than 90% of patients with NF-1.
- About 15% of patients with NF-1 have tumors on the optic nerves, which in rare cases may interfere with vision.
- A progressive curvature of the spine, bowing of leg bones, pulsating and bulging out of eyes
- Learning disabilities, Attention Deficit Disorders, abnormalities of speech, Seizures, large head, hydrocephalus, and psychological disturbances
- Neurofibromatosis type 2:
- Hearing loss, facial weakness, ringing in the ears, dizziness, balance problems, headaches or Seizures caused by masses on both eight nerves (acoustic neuroma)
- Occasionally, cafe-au-lait spots or tumors under the skin
- Cataracts in 50% of patients with NF-2
- Tumors of the brain or spinal cord can develop.
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- Neurofibromatosis is caused by an abnormal gene. This gene may be inherited from an affected parent, or it may occur as a result of spontaneous change in the genetic material.
- The gene for NF-1 is located on chromosome 17
- The gene for NF-2 is located on chromosome 22
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- Based on signs and symptoms
- Neurofibromatosis type 1. Any two of following:
1) Five or more cafe au-lait spots over 5 mm in diameter in prepubertal patients or six or more cafe au-lait spots over 15 mm in postpubertal patients; 2) yellowish or brownish spots in the groin or under the underarm area; 3) two or more iris Lisch nodules; 4) two or more neurofibromas or a plexiform neurofibroma; 5) abnormality of the skeleton; 6) optic glioma; 7) and, a first-degree relative with NF-1.
- Neurofibromatosis type 2:
Any one of following:
- CT scanning or MRI shows bilateral eight nerve masses
- Family history of NF-2 and either unilateral eighth nerve masses or the presence of two of the following: neurofibroma, meningioma, glioma, schwannoma, or cataract
- Genetic testing
- Linkage analysis
- Gene mutation analysis
- Baseline evaluation for NF
- Audiogram
- Auditory brain stem and visual evoked potentials
- Electroencephalogram
- Psychological testing
- Brain CT or MRI
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- No specific treatment
- Genetic counseling
- Surgical removal of skin tumor or other tumors
- Radiation or chemotherapy for tumors on the eye or ear nerves
- Surgical correction or a brace for Scoliosis
- Drugs are under development for the treatment of NF1 and NF2.
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- Learning disabilities
- Speech problems
- Seizures
- Psychological abnormalities
- Malignant tumors
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You
need to contact your pediatrician if your child has the above symptoms. Early diagnosis allows early treatment and can prevent some complications.
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