ERRATA: Less than half of all VHL is caused by a deletion of the VHL gene. There are a number of different mutations to the gene that cause the disorder.
Neurocutaneous Syndromes are a group of rare genetic disorders that affect multiple organ systems including the CNS, skin, visual pathway & auditory system. Many benign tumors develop. All of the ones we will cover are autosomal dominant.
Neurofibromatosis:
• Neurofibromas are tumors of peripheral nerves. They are benign but can cause problems by compressing nearby structures. They usually present just beneath the skin as many rubbery skin colored growths
• Café-au-lait spots are small light brown macules on the skin. Similar to a birthmark but if there are many it is suggestive of neurofibromatosis
• Bilateral vestibular schwannomas (bilateral acoustic neuroma) benign tumor of the vestibulocochlear nerve (Cranial nerve 8) that can compress nearby structures and lead to hearing loss
• Pigmented Iris Hamartomas (Lisch Nodule) which presents as many small areas of pigmentation on the iris (colored part of the eye)
• Other CNS tumors
Tuberous Sclerosis:
• Facial Angiofibromas (adenoma sebaceum)
• Brain/Cortical Hamartomas called Tubers for which the disease gets its names
• Subependymal Nodules in the ventricle
• Renal Angiomyolipomas are tumors made up of vessels, fat and smooth muscle
• Cardiac Rhabdomyomas
• Ash Leaf Spots are hypopigmented areas of the skin
• Seizures
• Mental Retardation
Von Hippel-Lindau Disease: deletion of the VHL gene
• Cerebellar and/or Retinal Hemangioblastomas (tumors of capillaries)
• Renal Cell Carcinoma
• Cystic lesions of various structures throughout the body
Now that you are done with this video you should check out the next video in the Genetics sections which coversTrinucleotide Repeat Expansion, Trisomy 21 & Translocations(www.stomponstep1.com/trinucleo...)
Pictures Used (In Order of Appearance)
• "Neurofibromatosis" by Almazi available at en.wikipedia.org/wiki/File:Neu... by Public Domain
• "NF-1-Tache cafe-au-lait" by Accrochoc available at en.wikipedia.org/wiki/File:NF-... by Creative Commons 3.0 Attribution-Share Alike
• "Lisch Nodule" by National Eye Institute available at en.wikipedia.org/wiki/File:Lis...
• By Public Domain
• Derivative of "Patient with facial angiofibromas caused by tuberous sclerosis" by Herbert L. Fred, MD and Hendrik A. van Dijk Available at en.wikipedia.org/wiki/File:Pat... by Creative Commons 3.0 Attribution-Share Alike
13 июн 2014
