Stuff I Learned: Neurocutaneous Syndromes
You learn a lot from writing a PBL case.
Neurofibromatosis
Neurofibromata are peripheral nerve sheath tumors can be cutaneous, nodular, or plexiform which can become malignant (MPNST, malignant peripheral nerve sheath tumors)
NF1 vs. NF2:
In NF2, cafe au lait spots are not as common, and Lisch nodules are not seen at all
Neurofibromata have smaller chance of malignant change
Spinal root tumors are schwannomas in NF2 and neurofibromas in NF1
NF2 is not associated with the cognitive impairment
NF2 is associated with a very high prevalence of bilateral acoustic schwannomas
Tuberous Sclerosis
Ash leaf spots = hypopigmented macules and there have to be at least 3, at least 5mm in diameter to “count“ in tuberous sclerosis
Subependymal = periventricular, and SEN only show up on CTB at around 2 years of age
Adenoma sebaceum = angiofibroma, and there have to be at least 3 to fulfill the criteria
Shagreen patches are roughened, elevated lesions that most often occur in the lumbarosacral region of the back
80% of TSC cases are due to de novo mutations, and TSC2 mutations are 4x as common as TSC1 mutations in de novo cases
Commonest features of TS: epilepsy, SEN, tuberous-associated neuropsychiatric disorders (TAND), cardiac rhabdomyoma (infants), renal angiomyolipoma, asymptomatic LAM, angiofibroma
Sturge-Weber Syndrome
Diagnosis requires at least 2 of the 3
Port-wine stain
Increased intra-ocular pressure
Leptomeningeal angiofibromatosis