Neurocutaneous Disorders

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    Cutaneous Capillary Telangiectasia

    Ataxia Telangiectasia
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    Ocular Telangiectasia

    Ataxia Telangiectasia
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    Ocular Telangiectasia

    Ataxia Telangiectasia
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    Central Nervous System Angioma

    Hereditary Hemorrhagic Telangictasia
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    Central Nervous System Angioma

    Hereditary Hemorrhagic Telangictasia
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    Cutaneous Angioma

    Hereditary Hemorrhagic Telangictasia
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    Mucocutaneous Angioma

    Hereditary Hemorrhagic Telangictasia
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    Hypomelanosis of Ito
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    Vesicular becoming Verrucous lesions

    Incontinentia Pigmenti
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    Port Wine Stain

    Klippel-Trenaunay Weber
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    Venous Varicosities

    Klippel-Trenaunay Weber
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    Acoustic Neuroma

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    Axillary Freckling

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    Plexiform Neurofibroma

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    T2 Hyperintensity

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    Cortical Calcifications

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    Leptomeningeal Angioma

    Sturge-Weber Syndrome
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    Port Wine Stain

    Sturge-Weber Syndrome
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    Ash Leaf Spot

    Tuberous Sclerosis
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    Cortical Tubers

    Tuberous Sclerosis
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    Facial Angiofibromas

    Tuberous Sclerosis
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    Radial Glial Lines

    Tuberous Sclerosis
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    Tuberous Sclerosis
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    Shagreen Patch

    Tuberous Sclerosis
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    Subependymal Nodules

    Tuberous Sclerosis
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    Cerebellar Hemangioblastoma

    Von Hippel-Lindau Syndrome
  30. What is the genetic basis of Ataxia Telangiectasia?
    • ATM Gene (Ataia Telangiectasia Mutant Gene)
    • Chromosome 11q22-q23
    • Protein coordinates the response to DNA breakage
  31. Major clinical features of Ataxia Telangiectasia include ...
    • Trunkal Ataxia - toddlerhood
    • Eye Telangiectasias - 3-5 years old
    • Skin Telangiectasias - 3-7 years old
    • Recurrent Sinopulmonary Infections - childhood
    • Choreoathetosis, Myoclonic Jerks, Tremors
  32. Major clinical features of Cockayne Syndrome include ...
    • Progeria
    • Cataracts
    • Photosensitive Skin
    • Short Stature
    • Lack of Adipose Tissue
  33. What is the genetic basis of Incontinentia Pigmenti?
    • X-linked Dominant Mutation
    • NF-kappa-B Essential Modulator Gene (NEMO)
    • Xq28
  34. What are the clinical features of Incontinentia Pigmenti?
    • Spasticity
    • Mental Retardation
    • Cutaneous lesions with four stages (vesicular, verrucous, hyperpigmented, and atrophic)
  35. What is the genetic basis for Neurofibromatosis Type 1?
    • NF1 gene
    • Chromosome 17q11.2
    • Codes the protein Neurfibromin which is a regulator of the RAS proto-oncogene
  36. What are the diagnostic criteria for Neurofibromatosis Type 1?
    • 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
  37. What is the genetic basis of Neurofibromatosis Type 2?
    • Mutation in the Merlin gene
    • Chromosome 22q12.2
  38. What is the genetic basis of Hereditary Hemorrhagic Telangiectasia (HHT)?
    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
  39. What are the clinical features of Hereditary Hemorrhagic Telangiectasia (HHT)?
    • Recurrent nose bleeds
    • Mucoccutaneous Angiomas
    • Intracranial Angiomas
    • Pulmonary Arteriovenous Malformations
  40. What are the clinical features of Sturge-Weber Syndrome?
    • Post-wine stains (typically V1/V2)
    • Gluacoma with Buphthalmos
    • Leptomeningeal Angiomas
    • Seizures
    • Developmental Delay
    • Hemiparesis
    • Strokes / Sinovenous Thrombosis
    • Migraines
  41. What is the genetic basis of Tuberous Sclerosis?
    TSC-1: Hamartin on chromosome 9q34

    TSC-2: Tuberin on chromosome 16p13.3
  42. What are theclinical features of Tuberous Sclerosis?
    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
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    Lisch Nodules as seen in NF1
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    • Optic Pathway Glioma as seen in NF1
    • ~15-25%
    • These are low-grade astrocytomas and may also occur in the cerebellum (JPA)
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    • Sphenoid Wing Dysplasia as seen in NF1
    • Patients may report exophthalmos with pulsations in the eye
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    Retinal Hamartomas as seen in NF2 or TS
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    Cortical Tuber as seen in TS
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    Periungual lesion as seen in TS
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    Retinal Angioma as seen in VHL
Card Set:
Neurocutaneous Disorders
2012-08-05 12:37:57
Neurocutaneous Disorders

Neurocutaneous Disorders
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