NEUROFIBROMATOSIS

NEUROFIBROMATOSIS (NF)

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NEUROFIBROMATOSIS (NF)

Neurofibromatosis is syndrome of Phakomatosis or Neuro-Occulo-Cutaneous type of Autosomal Dominant Genetic Anomaly. It can be hereditary germline change or acquired during early developmental stage, affecting structures of embryonic ectoderm, where in, there is mutation or rarely somatic mosaicsism(RASopathy) of NF1 gene or its alleles, present on Chromosome 17 and is responsible for synthesis of protein neurofibromin which regulates cell proloferation and differentiation which hampers tumour suppressor activity giving rise to tumours of nervous system.

TYPES OF NEUROFIBROMATOSIS

  1. NEUROFIBROMATOSIS TYPE 1. 

    It is considered to be syndrome falling under category RASopathies. It affects supporting structures of Peripheral Nervous System. This type rarely show any severe complication other than cosmetic and compression complaints.

  2. NEUROFIBROMATOSIS TYPE 2.  

    Involves Schwaan cell of Cranial nerves especially of Vestibulocochlear nerve that is 8th cranial nerve or CN VIII causing bilateral acoustic Schwannoma causing hearing loss. It shows many complications of cranial nerves and brain stem. It can be disabling and life threatening. Severeity varies in different individuals depending on the way in which the disease assumes its course in different individual.

  3. SCHWANNOMATOSIS.   

    In this type Schwann cell tumours are found in Peripheral and Spinal nerves. It can be very painful and disabling.

SYMPTOMS OF NEUROFIBROMATOSIS

  • Multiple upto six or more “cafe au lait” spots which are also present in Mc Cune Albright Syndrome.
  • Freckles generalised dispersed throughout body increasing simultaneously with neurofibromas.
  • Excessive folds of skin especially in underarm region with freckles.
  • More than one overgrowths in iris of eye.
  • More than one Neurofibroma.
  • Spinal growth and curvature anomalies.
  • During early stages of development in children it may show Learning and Behavioral problems
Cafe au Lait spots and neurofibroma in patient with Neurofibromatosis. 1)Neurofibroma marked in Green Circles 2)Cafe au Lait spots marked in Red Circles
Cafe au Lait spots and neurofibroma in patient with NF
1)Neurofibroma marked in Green Circles
2)Cafe au Lait spots marked in Red Circles
Neurofibromatosis patient with classical presentation of Cafe au Lait Spot, Neurofibromas and extensive freckles on back.
1)Café au Lait spot – dark brown spot marked in green circle
2) Neurofibroma – nodules marked in red circles
3)Freckles – Extensively scattered, small dark dots like pigmentation throughout the back
Above three are common findings in patients with Neurofibromatosis.
Plexiform Neurofibroma on eyelids in patient with neurofibromatosis
Plexiform Neurofibroma of eyelids
Cafe au Lait spots and neurofibroma in patient with Neurofibromatosis. 1)Neurofibroma in Red Circle 2) Cafe au Lait Spot in Green circle
Cafe au Lait spots and neurofibroma in case of NF.
1)Neurofibroma in Red Circle
2)Cafe au Lait Spot in Green circle

DIAGNOSIS OF NEUROFIBROMATOSIS

  • HISTOLOGY helps to confirm neurofibroma
  • SLIT-LAMP TEST
  • GENETIC TESTING helps confirm the diagnosis.
  • EEG, MRI, CT SCAN AND MRI helps us to assess tumour and its influence on surrounding tissue
  • Sphenoidal dysplasia on imaging, is one of the major finding in diagnosis  of NS1

HOMEOPATHIC MEDICINES FOR NEUROFIBROMATOSIS

  • THUJA
  • HYPERICUM
  • SILICEA
  • MEDHORRINUM
  • CONIUM MACULATUM
  • COCCULUS
  • BELLADONNA
  • CALCAREA FLOURICA
  • CALCAREA CARBONICA
  • GELSEMIUM SEMPERVIRENS
  • RUTA GRAVEOLENS
  • SYMPHYTUM
  • CALCAREA PHOSHORICA