ما هو التشخيص التفريقي للPhakomatosis؟
Phakomatosis : are neurocutaneous disease characterized by lesions in the nervous system, skin , and eyes
so what does it include?
no answers .....that's ok :
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
الله يجزيك ألف خير، سؤال شائع ويسأل، لكن ما اسمه العربي للـPhakomatosis؟
لكن ما اسمه العربي للـPhakomatosis؟
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!!!!