Neurology Book

Neurocutaneous

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Neurofibromatosis

Aka: Neurofibromatosis, von Recklinghausen Disease
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  1. Epidemiology
    1. Autosomal dominant
      1. Chromosome region 17q11.2
      2. Parent with NF has 50% of transmission per birth
    2. Incidence
      1. NF-1: 1 in 4000
      2. NF-2: 1 in 50,000
  2. Pathophysiology
    1. Disorder of neural crest differentiation
  3. Diagnostic Criteria: NF-1 (any 2 of below present)
    1. Cafe-Au-Lait Spots (6 or more in 100% of cases)
      1. Pre-Puberty: >5 mm greatest diameter
      2. Post-Puberty: >15 mm greatest diameter
    2. Axillary or inguinal Freckles (2-3 mm diameter)
    3. Iris Lisch Nodules (2 or more)
      1. Hamartomas on iris (slit lamp exam)
      2. Present in half by kindergarten, 100% by age 21 years
    4. Optic Glioma (Optic Nerve benign tumor)
      1. Pupil dilates on response to bright light
    5. Neurofibromas (2 or more)
      1. Small, rubbery, purple skin lesions
    6. Bone abnormalities (one of associated conditions)
      1. Scoliosis (most common)
      2. Sphenoid dysplasia
      3. Long bone cortical thinning
    7. First degree relative with NF-1
  4. Diagnostic Criteria: NF-2 (one of the following)
    1. Bilateral Cranial Nerve 8Acoustic Neuromas
    2. First degree relative with NF-2 and one criteria below:
      1. Unilateral Acoustic Neuroma
      2. Neurofibroma (much less common in NF-2)
      3. Meningioma
      4. Glioma
      5. Schwannoma
      6. Posterior subcapsular lenticular opacity
  5. Associated Conditions
    1. NF-1
      1. Intracranial low grade gliomas and hamartomas
      2. Learning disabilities (e.g. ADHD)
      3. Speech abnormalities
      4. Seizure disorder
      5. Macrocephaly
      6. Hydrocephalus (rare)
      7. Cerebrovascular Disease (Moyamoya Disease)
      8. Hypertension
        1. Associated with Renal Artery Stenosis
        2. NF-1 also associated with Pheochromocytoma
      9. Precocious Puberty
      10. Malignancies (e.g. Leukemia, Wilms' Tumor)
      11. CNS tumors (e.g. meningiomas, astrocytomas)
    2. NF-2
      1. CNS tumors (e.g. Schwann cell, glioma, meningioma)
  6. Monitoring
    1. Detailed history and physical periodically
    2. Pediatric Ophthalmology annually
  7. References
    1. Behrman (2000) Nelson Textbook of Pediatrics, p. 1835
    2. Debella (2000) Pediatrics 105:608-14
    3. Lynch (2002) Neurol Clin 20(3):841-65

Neurofibromatoses (C0162678)

Definition (NCI) An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas.
Definition (MEDLINEPLUS)

Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children.

There are three types of neurofibromatosis:

  • Type 1 (NF1) causes skin changes and deformed bones and usually starts at birth.
  • Type 2 (NF2) causes hearing loss, ringing in the ears and poor balance. It often starts in the teen years.
  • Schwannomatosis causes intense pain. It is the rarest type.

There is no cure. Treatment is aimed at controlling symptoms. Depending on the type of disease and how bad it is, treatment may include surgery to remove tumors, radiation therapy and medicines.

NIH: National Institute of Neurological Disorders and Stroke
Definition (MSH) A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)
Definition (CSP) group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas; neurofibromatosis 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., neurofibromatosis 2, neurofibromatosis 3, etc.) have been described.
Concepts Neoplastic Process (T191)
MSH D017253
ICD9 237.70, 237.7
ICD10 M9540/1, Q85.00
SnomedCT 154642000, 81669005, 19133005
English Neurofibromatosis, NEUROFIBROMA, MULTIPLE, NEUROFIBROMATOSIS, Neurofibromatosis, NOS, Neurofibromatosis, unspecified, Neurofibromatoses, Neurofibromatosis NOS, neurofibromatosis (diagnosis), neurofibromatosis, Neurofibromatosis (disorder), Multiple Neurofibroma, Multiple Neurofibromas, Neurofibroma, Multiple, Neurofibromas, Multiple, Neurofibromatosis Syndrome, Neurofibromatosis Syndromes, Syndrome, Neurofibromatosis, Syndromes, Neurofibromatosis, Neurofibromatoses [Disease/Finding], neurofibromatosi, neurofibromatosys, multiple neurofibromatosis, neurofibromatose, Multiple neurofibromatosis, Neurofibromatosis syndrome, NF - Neurofibromatosis, [M]Multiple neurofibromatosis, [M]Neurofibromatosis NOS, Clinical neurofibromatosis, Neurofibromatosis (morphologic abnormality), Neurofibromatosis syndrome (disorder), neurofibromatoses
Dutch neurofibromatose, niet-gespecificeerd, neurofibromatose, Neurofibromatose
French Neurofibromatose, non précisée, Neurofibromatose, Neurofibromatoses, Neurofibromes multiples
German Neurofibromatose, unspezifisch, Neurofibromatose, Neurofibromatosen
Italian Neurofibromatosi, non specificato, Neurofibromatosi
Portuguese Neurofibromatose NE, Neurofibromatose Tipo 3, Neurofibromatose, Neurofibromatoses
Spanish Neurofibromatosis no especificada, Neurofibromatosis, neurofibromatosis (anomalía morfológica), neurofibromatosis clínica, neurofibromatosis múltiple, neurofibromatosis, SAI, neurofibromatosis, síndrome de neurofibromatosis (trastorno), síndrome de neurofibromatosis
Japanese 神経線維腫症、詳細不明, ｼﾝｹｲｾﾝｲｼｭｼｮｳｼｮｳｻｲﾌﾒｲ, ｼﾝｹｲｾﾝｲｼｭｼｮｳ, 神経線維腫症, 神経鞘腫症
Swedish Neurofibromatoser
Czech neurofibromatózy, Neurofibromatóza, blíže neurčená, Neurofibromatóza
Finnish Neurofibromatoosit
Russian NEIROFIBROMATOZY, NEVROFIBROMATOZ, NEIROFIBROMATOZ, НЕВРОФИБРОМАТОЗ, НЕЙРОФИБРОМАТОЗ, НЕЙРОФИБРОМАТОЗЫ
Croatian NEUROFIBROMATOZE
Polish Neurofibromatozy, Nerwiakowłókniakowatość
Hungarian Neurofibromatosis, nem meghatározott, Neurofibromatosis
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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