Neurocutaneous Disorders

Cutaneous Capillary Telangiectasia

Ataxia Telangiectasia

Ocular Telangiectasia

Ataxia Telangiectasia

Ocular Telangiectasia

Ataxia Telangiectasia

Central Nervous System Angioma

Hereditary Hemorrhagic Telangictasia

Central Nervous System Angioma

Hereditary Hemorrhagic Telangictasia

Cutaneous Angioma

Hereditary Hemorrhagic Telangictasia

Mucocutaneous Angioma

Hereditary Hemorrhagic Telangictasia

Hypomelanosis of Ito

Vesicular becoming Verrucous lesions

Incontinentia Pigmenti

Port Wine Stain

Klippel-Trenaunay Weber

Venous Varicosities

Klippel-Trenaunay Weber

Acoustic Neuroma

Neurofibromatosis

Angiokeratoma

Neurofibromatosis

Axillary Freckling

Neurofibromatosis

Neurofibromas

Neurofibromatosis

Plexiform Neurofibroma

Neurofibromatosis

T2 Hyperintensity

Neurofibromatosis

Hemangioblastoma

PHACES

Cortical Calcifications

Sturge-Weber

Leptomeningeal Angioma

Sturge-Weber Syndrome

Port Wine Stain

Sturge-Weber Syndrome

Ash Leaf Spot

Tuberous Sclerosis

Cortical Tubers

Tuberous Sclerosis

Facial Angiofibromas

Tuberous Sclerosis

Radial Glial Lines

Tuberous Sclerosis

SEGA

Tuberous Sclerosis

Shagreen Patch

Tuberous Sclerosis

Subependymal Nodules

Tuberous Sclerosis

Cerebellar Hemangioblastoma

Von Hippel-Lindau Syndrome

• ATM Gene (Ataia Telangiectasia Mutant Gene)
• Chromosome 11q22-q23
• Protein coordinates the response to DNA breakage

• Trunkal Ataxia - toddlerhood
• Eye Telangiectasias - 3-5 years old
• Skin Telangiectasias - 3-7 years old
• Recurrent Sinopulmonary Infections - childhood
• Choreoathetosis, Myoclonic Jerks, Tremors

• Progeria
• Cataracts
• Photosensitive Skin
• Short Stature
• Lack of Adipose Tissue

• X-linked Dominant Mutation
• NF-kappa-B Essential Modulator Gene (NEMO)
• Xq28

• Spasticity
• Mental Retardation
• Cutaneous lesions with four stages (vesicular, verrucous, hyperpigmented, and atrophic)

• NF1 gene
• Chromosome 17q11.2
• Codes the protein Neurfibromin which is a regulator of the RAS proto-oncogene

• 2 or 7 of the following:
• Axillary Freckling
• Bone Deformities (sphenois, femur)
• Cafe au lait Spots
• 1st Degree Relative
• Lisch Nodules
• Neurofibromas
• Optic Pathway Gliomas

• Mutation in the Merlin gene
• Chromosome 22q12.2

HHT 1 - endoglin gene (ENG) on chromosome 9q34.1 which is a component of the TGF-beta receptor

HHT 2 - activin receptor-like kinase gene (ACVRL1) on chromosome 12q11-13 which codes for a TGF-beta ligand

• Recurrent nose bleeds
• Mucoccutaneous Angiomas
• Intracranial Angiomas
• Pulmonary Arteriovenous Malformations

• Post-wine stains (typically V1/V2)
• Gluacoma with Buphthalmos
• Leptomeningeal Angiomas
• Seizures
• Developmental Delay
• Hemiparesis
• Strokes / Sinovenous Thrombosis
• Migraines

TSC-1: Hamartin on chromosome 9q34

TSC-2: Tuberin on chromosome 16p13.3

Cutaneous: Ash-leaf Spots, Adenoma Sebaceum, Shagreen Patch, Finger / Toe Angiofibromas

Ocular: Retinal Hamartomas and Mulberry Tumors

Systemic: Reanl Cysts / Hamartomas, Pulmonary Hamartomas, Cardiac Rhabdomyomas

Neurologic: Subependymal Nodules, Cortical Tubers, Infantile Spasms, Mental Retardation, Autism, SEGAs

Lisch Nodules as seen in NF1

• Optic Pathway Glioma as seen in NF1
• ~15-25%
• These are low-grade astrocytomas and may also occur in the cerebellum (JPA)

• Sphenoid Wing Dysplasia as seen in NF1
• Patients may report exophthalmos with pulsations in the eye

Retinal Hamartomas as seen in NF2 or TS

Cortical Tuber as seen in TS

Periungual lesion as seen in TS

Retinal Angioma as seen in VHL