NF1

(Diagnosis requires 2 of 7 clinical criteria)

• Autosomal Dominant

• Neurofibromas (>=2) [1, if plexiform]
• Optic Gliomas
• Cafe-au-lait (>=6) (5mm prepubertal, 15mm postpubertal) (+Woods lamp)
• Axillary/Inguinal Freckling
• Lisch Nodules (>=2) (often not before school age)
• Osseous lesions (e.g.- sphenoid dysplasia, pseudoarthrosis)
• + FH (parent, child,sib)

• Autosomal Dominant

• Acoustic Neuroma
• Schwannoma
• Glioma
• Meningioma

NF2 (diagnostic criteria)

(Only one required)

• Bilateral CN VIII mass on MRI with Gadolinium
• +FH AND any of the following
• Unilateral CN VIII mass on MRI with Gad
• Neurofibroma
• Meningioma
• Glioma
• Schwannoma
• Posterior capsule cataract (at youngn age)

• Autosomal Dominant (60-70% spontaneous mutations)
• Ash Leaf Spots
• Shagreen Patch (often over lumbar spine)
• Cafe-au-lait
• Ademona Sebaceum
• Cardiac Rhabdomyomas (tend to regress)
• Mental Retardation
• Epilepsy (any and all types)
• Infantile spasms (in 25%)
• Renal disorders
• Angiolipomas (progressive)
• Renal cysts (progressive)
• Renal cell carcinomas may develop rarely

In asymptomatic TS, no Tx indicated. Need yearly F/U and genetic counseling

• Port-Wine Stain (Does NOT occur on face--> NO neural sequelae
• Hemangiomas
• Hemihypertrophy

• Complications
• AV fisulae
• CHF
• Cellulitis
• Thrombocytopenia

• SPORADIC inheritance
• Port-Wine Stain (CN V₁) - 100%
• Seizures (often intractable) - 75% by 1 year
• Glaucoma - 60% by 1 year
• Developmental Delay - 60%
• Extremity Port-Wine stain - 50%
• Leptomeningeal angiomas (ipsilateral)--> intracerebral calcifications

Tuberous Sclerosis

(Diagnostic Criteria)

2 Major or 1 Major/2 Minor

"Probable" if 1 Major/1 Minor

• Major
• Adenoma Sebaceum (Facial angiofibromas)
• Ungual/Subungual fibromas
• >3 Ash-Leaf spots (hypomelanotic macules) [+ Woods Lamp]
• Shagreen Patch
• Multiple retinal hamartomas
• Cortical tuber
• Subependymal giant-cell astrocytoma
• Cardiac Rhabdomyomas
• Subependymal nodule (myomas)
• Lymphangiomyomatosis
• Renal  angiomulipomas

• Minor
• Multiple dental pits
• Hamartomatous rectal polyps
• Bone cysts
• Gingival fibromas
• Multiple renal cysts
• Nonrenal (often cortical) hamartomas
• Retinal achromic patches

• X-Linked Dominant (LETHAL IN MALES)
• Skin Changes
• Vesicular
• Papular
• HYPERpigmentation
• Atrophy
• Alopecia
• Nail/Dental abnl ("Peg-shaped Teeth")
• Mental Retardation
• Swirled cutaneous pattern due to mosaicism or Lyonization

• Autosomal Dominant (or sporadic)
• HYPOpigmented whorls, streaks and patches along Blaschko's Lines)
• Dental anomalies
• Colobomas/cataracts
• Limb anomalies
• Seizures
• MR
• Neuronal migration anomalies

Autosomal Dominant (rarely AR)

• White Forelock
• Iris Heterochromia
• Cochlear Deafness
• Albinotic fundi
• Leukoderma
• Occasional cleft palate, neural tube defects and Hirschsprung

Autosomal Recessive / X-Linked Recessive

Nystagmus

Foveal hypoplasia

Complications:

Decreased Vicual Acuity

Hearing Loss

Skin Cancer

Classification:

Oculocutaneous

Ocular

• SPORADIC inheritance
• Disproportionate growth (limbs, skull, and/or internal organs - hepatosplenomegaly)
• Lipomas
• Lymphangioma
• Hemangiomas (esp. Truncal)
• Proximal limb girth asymmetry
• Occasional CNS anomalies, dev. delay