Neurocutaneous Disorders

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  1. Cutaneous Capillary Telangiectasia

    Ataxia Telangiectasia
  2. Ocular Telangiectasia

    Ataxia Telangiectasia
  3. Ocular Telangiectasia

    Ataxia Telangiectasia
  4. Central Nervous System Angioma

    Hereditary Hemorrhagic Telangictasia
  5. Central Nervous System Angioma

    Hereditary Hemorrhagic Telangictasia
  6. Cutaneous Angioma

    Hereditary Hemorrhagic Telangictasia
  7. Mucocutaneous Angioma

    Hereditary Hemorrhagic Telangictasia
  8. Hypomelanosis of Ito
  9. Vesicular becoming Verrucous lesions

    Incontinentia Pigmenti
  10. Port Wine Stain

    Klippel-Trenaunay Weber
  11. Venous Varicosities

    Klippel-Trenaunay Weber
  12. Acoustic Neuroma

  13. Angiokeratoma

  14. Axillary Freckling

  15. Neurofibromas

  16. Plexiform Neurofibroma

  17. T2 Hyperintensity

  18. Hemangioblastoma

  19. Cortical Calcifications

  20. Leptomeningeal Angioma

    Sturge-Weber Syndrome
  21. Port Wine Stain

    Sturge-Weber Syndrome
  22. Ash Leaf Spot

    Tuberous Sclerosis
  23. Cortical Tubers

    Tuberous Sclerosis
  24. Facial Angiofibromas

    Tuberous Sclerosis
  25. Radial Glial Lines

    Tuberous Sclerosis
  26. SEGA

    Tuberous Sclerosis
  27. Shagreen Patch

    Tuberous Sclerosis
  28. Subependymal Nodules

    Tuberous Sclerosis
  29. 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
  43. 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
  44. Retinal Hamartomas as seen in NF2 or TS
  45. Cortical Tuber as seen in TS
  46. Periungual lesion as seen in TS
  47. Retinal Angioma as seen in VHL

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Neurocutaneous Disorders
2012-08-05 12:37:57
Neurocutaneous Disorders

Neurocutaneous Disorders
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