Phacomatoses Flashcards
1
Q
Inheritance of neurofibromatoses
A
AD
2
Q
TYPE 1 NF aka
A
Von reckling Hausen disease
3
Q
Type 2 NF aka
A
MISME Multiple inherited tumours like Schwannoma Meningioma Ependymoma
4
Q
Chr affected in NF 1
A
Chr 17
5
Q
Chr affected in NF 2
A
Chr 22
6
Q
Patho gnomic sign of NF1
A
Axillary freckling
7
Q
Inheritance of tuberous sclerosis
A
AD
8
Q
Tuberous sclerosis aka
A
Bournwilles disease
9
Q
Chr involved in TSC 1
A
Chr 9
10
Q
Chr affected in TSC 2
A
Chr 16
11
Q
Triad of tuberous sclerosis
A
EPILOIA (vogts triad)
EPILEPSY
LOW INTELLIGENCE
ADENOMA SEBACEUM
12
Q
Earliest feature of TSC
A
Ash leaf macule
13
Q
Major features of TSC
A
Ash leaf Macule
Adenoma sebaceum
Shagreen patch
Koenens Timor
14
Q
Minor features of TSC
A
Confetti Macules
Dental enamel pits
Gingival fibrosis
15
Q
Sturge Weber syndrome components
A
Tram track calcification
Glaucoma
Facial port wine stain
