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Lisch nodules Pictures, Symptoms, Causes, Treatment

   

Melanocytic iris hamartomas is another term used for lisch nodules. Lisch nodules is an ocular disease in which hamartomas appear in iris like a sharp appearance. These hamartomas are soft or smooth masses which appear on stromal surface. These hematomas consist of spindle cells which have melanocytic origin. Lisch nodules were named after a scientist named Karl Lisch who 1st recognized them. This condition of eyes is related to severe condition of skin freckles and café-au-lait spots.

Lisch nodules are considered the commonest type of ocular involvement neurofibromatosis NF and said to be neurofibromatosis type 1 NF type-1. These hamartomas are clear yellow to brown in color. It appears as dome shaped elevations on surface. Lisch nodules are not microscopic and can be seen with naked eye. It is also reported that these lesions (hamartomas) have blurred margins. These nodules do not cause any further complication. Lisch nodules are most commonly found in adults above 20 years of age. Lisch nodules have some specific characteristics as follows:


  • Specific for NF-1
  • These nodules appear in 1st decade
  • All people with NF-1 virtually have lisch nodes at the age of 20. 
  • These are benign hamartomas histologically resemble to iris nevi.

Lisch nodules Pictures


Lisch nodules Pictures, Symptoms, Causes, Treatment



Lisch nodules Symptoms


Signs and symptoms are mild to moderate in appearance but these signs and symptoms may vary in severity cases. Common signs and symptoms are as follows:

  • Along with lisch nodules some flat and light brown in color spots appear on skin surface which are known as cafe au lait spots. These spots if more than 6 is considered as a strong indication for lisch nodules.
  • Freckles occur in groin area and armpits. These are smaller in size than café au lait spots. 
  • Small bumps on iris, minor and soft bumps appear on and under skin surface.
  • Patient face learning disabilities. 

Lisch nodules Causes

       
As lisch nodules is the type of neurofibromatosis which is caused by mutation in genes i.e. genetic defects. Specific genes are involved in it. These mutated genes are either passed on by parents or occur later. NF 1 gene is involved which is present on chromosome no. 17. Neurofibromin is a protein which is produced by NF 1 gene. This protein helps in regulation of cell growth. When mutation occur in NF 1 gene, it leads to loss of that protein named Neurofibromin. Due to absence of Neurofibromin, cells grow abnormally and uncontrollably.


Lisch nodules Treatment

       
There is no treatment for lisch nodules but signs and symptoms can be cured with proper treatment. Regular monitoring is required for complete and better outcome. If symptoms become severe then surgery is recommended. Tumors are removed by surgical procedure which might be compressing other cells around them. Stereotactic radiosurgery is another treatment option to treat tumor. In stereotactic radiosurgery, radiations are used to remove tumors and incision is not required. Auditory brainstem implants and cochlear implants are also performed. Some pain medications are also prescribed like amitriptyline which is a tricyclic anti-depressant, gabapentin or pregabalin for nerve pain.

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