Disease i forget

Question 1

NF1

Answer 1

lisch nodules 
cafe spots 
cutaneous neurofibromas 
100%penetrance 
pheochromocytoma
Cr17

Question 2

NF2

Answer 2

cataracts bilateral
hemangioma/ ependymoma
bilateral schwannoma
Cr22

Question 3

VHL

Answer 3

bilateral renal carciinoma
hemangioma
pheochromocytoma

Question 4

tuberous sclerosis

Answer 4

ch 9 and 16
hamrtomas
ash leaf pirgmentation
sizures rhabdomyomas

Question 5

sturge weber syndrome

Answer 5

face pigments unilateral (v1 and V2)
EPILLEPSY 
unilateral menigomas 
retardaition 
GNAQ mutation

Question 6

sjogren syndrome

Answer 6

This patient is presenting with classic symptoms of Sjögren syndrome, including keratoconjunctiva sicca (dry eyes) and xerostomia (dry mouth). Sjögren’s syndrome is an autoimmune disease characterized by reduced salivary and lacrimal function, which commonly coexists with rheumatoid arthritis. A salivary gland biopsy from the lower lip can show lymphocytic infiltrates, and antibodies against the Ro/La antigens may also help in the diagnosis of Sjögren’s syndrome.