Neurocutaneous syndromes Disease
About Gene:
A group of uncommon neurological illnesses affecting the brain, spine, and peripheral nerves are collectively referred to as neurocutaneous syndrome. These illnesses, which can result in lifelong tumor growth inside the brain, spinal cord, organs, skin, and skeletal bones. Skin lesions are the most typical abnormalities seen in youngsters.
Number of Patients: 0
Disease Causing Genes:
Sign and Symptoms:
- hearing loss, headaches, seizures, scoliosis, and facial pain or numbness
Diagnosis:
(1) Major features: Skin, brain, and eye lesions Tumors in the heart, lungs, and kidneys (2) Minor features: Bone cysts, rectal polyps, rectal polyps, dental enamel pits, gingival fibromas, non-renal hamartomas, achromatic retinal patches, confetti skin lesions, and multiple renal cysts
Preventions:
Treatment:
A neurocutaneous syndrome is a lifelong condition that has no cure. In some cases, surgery may be done to remove tumors that may be cancer or for cosmetic reasons.