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التشخيص التفريقي للPhakomatosis


التشخيص التفريقي للPhakomatosis

المعلومة

ما هو التشخيص التفريقي للPhakomatosis؟

المرجع

BLUEPRINTS PEDIATRIC

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Phakomatosis : are neurocutaneous disease characterized by lesions in the nervous system, skin , and eyes
so what does it include?

qusei


no answers .....that's ok :
1-neurofibromatosis :
Type 1 (von reklinghausen’s disease) the genetic defects is mapped on chromosome 17.

Type 2 ( bilateral acoustic neurofibromatosis) the genetic abnormality occurs on chromosome 22.
2-tuberous sclerosis: a genetic abnormality exists at chromosome site 9q34 or 16p13.
Typical skin lesions include ASH-LEAF spots(flat hypo pigmented macules) and SHAGREEN PATCHES( areas of abnormal skin thickening)
3- von hippel-lindau’s:
It is characterized by retinal angiomas, cerebella hemangioblastomas .
It is associated by renal cell carcinoma and pheochromocytoma .
4- sturge-weber’s :
Is associated with a port-wine stain over the area innervated by cranial nerve 5 , first division (CNV1

qusei


الله يجزيك ألف خير، سؤال شائع ويسأل، لكن ما اسمه العربي للـPhakomatosis؟

DAM's picture
DAM

Quote:
لكن ما اسمه العربي للـPhakomatosis؟

متلازمة عداسية!!!!!

qusei


well who is using this term anyway? I know these as "neurocutaneous syndromes" ....nver used "phakomatosis" before
I thought it is something related to ophthalmology!!!!

Dr_Ayyad
بعد التخرج

Don't expect many answers for such rare and hard to remember diseases, yet thank you very much for reminding us of them

.

burhan
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