Von Recklinghausen disease


Von Recklinghausen disease is now known as Neurofibromatosis type I or abbreviated as NF- 1. This disease derives its name from a researcher known as Friedrich Daniel von Recklinghausen who was the first to describe the disease. He also discovered and declared that the disease a genetic disorder. This is one of the commonly inherited disorder resulted due to affliction by a single gene. This physical condition should be mistaken with Proteus syndrome. During diagnosis of the disease NF-1 may also be mistaken with Legius syndrome.

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Diagnosis of Von Recklinghausen disease:

Diagnosis includes a prenatal testing. For example Embryo related examinations. It is possible to screen Von Recklinghausen disease through pre- implantation genetic diagnosis for the embryos produced via in- vitro fertilization. Also other techniques such as CVS or Chroionic Villus Sampling and AFT or Amniotic Fluid Test also referred to as amniocentesis, are also used to diagnose NF- 1 in fetus.

In postnatal testing the NIH or National Institute of Health has set certain criteria to diagnose Von Recklinghausen disease. To ensure positive diagnosis of NF- 1 two of these 7 cardinal clinical features should be determined to be true.

Over six Café au lait macules more than 5 millimeter in greatest diam in individuals who are in their pre-pubertal stage and more than 15 millimeter in greatest diam in case of individuals in their post pubertal phase. Remember that several Café au lait macules are cannot alone indicate NF- 1 as this condition may also be arise due to other possible condition.

• More than 1 neurofibromas of any kind or at least 1 plexiform neurofibroma

• Spotting in the inguinal area or axillary

• Optic nerve glioma

• More than 1 lisch nodules also referred to as iris hamartomas

• A classifiable osteal lesion like sphenoid dysplasia or cortex of long bone is also undergoes thinning which may be accompanied with pseudarthrosis or without it.

• First degree relative or members who share 50% of gene with inclusion of NF- 1 according to the aforementioned criteria.

• Determined changes related to NF- 1 gene, which is situated at 17q11.2 chromosome.

Symptoms of Von Recklinghausen disease:

There are certain signs that indicate the prevalence of NF-1 these symptoms may include:

• Café au lait macules that are patches seen on the skin of the affected individual. Initially they may look like freckles on an affected infant but as the child grown during early ages of life, the patches may get bigger in size.

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• Lisch nodules are small noncancerous or benign tumor that is situated on the iris of the eye. Lisch nodules do not have ocular disabilities but later tumors may progress within the eye. This tumor is referred to as optic gilomas; which may or may not have any influence on the vision.

• Neurofibromas are noncancerous tumors that are situated mostly under the skin or on the top of the skin. These tumors may also develop on the nerves. Some people with NF- 1 affliction have also been diagnosed with such cancerous tumor on the nerve. These tumors are also scientifically referred to as Malignant Peripheral Nerve Sheath Tumors (MPNST).

• Hypertension also commonly referred to as high blood pressure is another symptoms associated with Von Recklinghausen disease

• Short height

• Unusually bigger head (this condition is scientifically known as Macrocephaly)

• Abnormalities related to bone for example scoliosis etc.

• Diffusely or disability of learning

• ADHD abbreviated form of Attention Deficit Hyperactivity Disorder

• Seizures

• Unclear or slurred speech

• Freckles observed near groin or under the armpit

Treatment of Von Recklinghausen disease:

There are several symptoms experienced under NF- 1 or Von Recklinghausen disease. Though there is no confirmed or complete cure for the disease, your treatment may focus on reducing the symptoms and providing alleviation from the difficulties. You doctor may minutely examine possible physical changes and complications such as musculoskeletal issue, scoliosis etc. if any conditions is determined then your doctor may recommend orthopedic surgeon for further evaluation and treatment.

The doctor may suggest surgical procedures depending on the severity of the disease. The treatment may also depend upon the position of the tumor, severity and other factors. If your tumor is determined to be cancerous and may possibly affect surrounding region, then the doctor may focus on removing away the tumor. Radiation therapy and chemotherapy are other possible treatments.

There are possibilities that you and your family may have to undergo genetic and psychological counseling to educate your self about Von Recklinghausen disease. This will help you and your family to cope well with the issue. Understanding hereditary issues in your family may prove as a significant aid and you will be able to diagnose pregnant ladies in the bloodline determine whether the fetus or embryo is affected with Von Recklinghausen disease.

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