Page 1 of 1: neurofibromatosis, Tuberous sclerosis, von Hippel Lindau

Nicki · Credits: 2463 My Scrapbook My Reading List 7 Books

to diagnose neurofibromatosis U need 2 or more of the following
1. Neurofibromas - Two or more, or one plexiform neurofibroma
2 - Café-au-lait macules - Six or more measuring 1,5 cm in their greatest dimension
3 - Freckling - In the axillary or inguinal areas
4 - Optic glioma
5 - Iris hamartomas(Lisch nodules) - Two or more
6 - Sphenoid dysplasia or thinning of the cortex of the long bones
7 - First-degree relative
Associated carcinoma
MEN 2B,
cerebral glioma,
CNS hamartomas,
small-bowel leiomyoma/leiomyosarcoma,
meningiomas (intracranial and spinal),
sarcomas,
leukemia, lymphoma,
melanoma,
pheochromocytoma,
neuroblastoma,
nonossifying fibromas,
adrenal cortical adenomas

Tuberous sclerosis associations
Three types of brain tumors are associated with TSC cortical tubers, subependymal nodules,and giant-cell astrocytomas,
Facial angiofibromas or forehead plaque
Nontraumatic ungual or periungual fibroma
Hypomelanotic macules (>3)
Shagreen patch (connective tissue nevus)
Multiple retinal nodular hamartoma
Cardiac rhabdomyoma, single or multiple
Lymphangioleiomyomatosis:
renal angiomyolipoma
Hamartomatous rectal polyps
renal cysts
bone cysts

Neoplasms in Von Hippel Lindau
Adrenal phaeochromocytomas
Epididymal cystadenomas Endolymphatic sac papillary adenocarcinomas of the inner earHaemangioblastomas of the CNS, especially of the cerebellum, spinal cord, and brain stem.
Neoplasms, such as adenocarcinoma, islet cell tumors, and tumors of the amine precursor uptake and decarboxylation (APUD) system
Pancreatic cysts
Renal clear cell carcinomas (23% to 45%)
Renal cysts
Retinal angiomas

dr_amh10 · Credits: 1672 My Scrapbook

I did a renal job @BLT, they reckoned that less than 15% of their cases with VHL developed RCC - it is apparently over-estimated in most textbooks - but I will go with your figures. I have to remember itis not what I have been told it is what the college EXPECTS!!

Nicki · Credits: 2463 My Scrapbook My Reading List 7 Books

RCC is the presenting feature in only 10% of patients, but the risk of developing RCC by age 60 years is approximately 70%
renal cell carcinoma is the leading cause of death in patients with VHL disease -35-75% prevalence in autopsies
this would explain why not many were seen where u worked

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