Neurofibromatosis

Question 1

Types

Answer 1

Type 1(most common) : mutation in NF1(Neurofibromin1) gene. 
Type 2 : mutation in NF2 gene. 

Both are Autosomal dominant.
Both can arise de novo in 50% .

Question 2

Neurofibromatosis Type 1

Answer 2

Café-au-lait spots (six or more,larger than 5 mm {before puberty} or more than 15 mm {after puberty} ).
Axillary or inguinal freckling.
Iris hamartomas (Lisch nodules).
Neurofibroma.
Life expectancy may be reduced by 10y - 15y

Malignancy is the most common cause of death.

Question 3

Neurofibromatosis Type 2

Answer 3

Multiple intracranial and spinal tumors including :
Schwannomas, meningiomas, gliomas.

Posterior capsular or cortical cataracts.

Skin lesions including : plaque like lesions, subcutaneous nodules, cutaneous Schwannomas.

Not features of NF2 : Lisch nodules, Café-au-lait spots, Axillary freckling