Neurocutaneous Syndromes 02

Topic: Adult

Created on Saturday, February 17 2007 by jdmiles

Last modified on Saturday, February 17 2007.

 
        A) Genetic abnormality on chromosome 22
 
        B) Axillary freckling
 
        C) Genetic defect on chromosome 17
 
        D) Retinal astrocytoma
 
        E) Ungual fibromata
 

 

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This question was created on February 17, 2007 by jdmiles.
This question was last modified on February 17, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) genetic abnormality on chromosome 22

This answer is correct.

NF2 is a genetic disorder, with autosomal dominant inheritance. The gene associated with NF2 is on chromosome 22.  (See References)

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B) axillary freckling

This answer is incorrect.

Skin changes, including cafe au lait spots, molluscum fobrosum (cutaneous tumors), and freckling in the axillae and groin, are typical of neurofibromatosis type 1 (NF1), but are not characteristic of NF2.  (See References)

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C) genetic defect on chromosome 17

This answer is incorrect.

NF2 is a genetic disorder, with autosomal dominant inheritance. The gene associated with NF2 is on chromosome 22. Chromosome 17 is associated with neurofibromatosis type 1 (NF1).  (See References)

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D) retinal astrocytoma

This answer is incorrect.

Retinal astrocytomas are not characteristic of NF2. They are associated with tuberous sclerosis.  (See References)

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E) ungual fibromata

This answer is incorrect.

Ungual fibromata are not characteristic of NF2. They are associated with tuberous sclerosis.  (See References)

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References:

1. Neurofibromatosis Fact Sheet, NINDS. NIH Publication No. 06-2126
2. Victor, M., and Ropper, A.H. (2001). Adams and Victor's Principles of Neurology, 7th Edition. McGraw-Hill, New York. Pp. 1069-1076.
3. Santos, C.C., Miller, V.S., and Roach, E.S. (2004). Neurocutaneous syndromes. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, 4th Edition. Butterworth Heinemann, Philadelphia. Pp. 1867-1900.

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adult
Neurocutaneous Syndromes 02
Question ID: 021707088
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/17/2007
Modified: 02/17/2007
Estimated Permutations: 491400