Neurocutaneous Syndromes 01

Topic: Adult

Created on Saturday, February 17 2007 by jdmiles

Last modified on Saturday, February 17 2007.

 
        A) Retinal astrocytoma
 
        B) Genetic defect on chromosome 17
 
        C) Paucity or absence of cutaneous lesions
 
        D) Genetic abnormality on chromosome 22
 
        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) retinal astrocytoma

This answer is incorrect.

Retinal astrocytomas are not characteristic of NF1. They are associated with tuberous sclerosis.   (See References)

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B) genetic defect on chromosome 17

This answer is correct.

NF1 is a genetic disorder, with autosomal dominant inheritance. The gene associated with NF1 is on chromosome 17.  (See References)

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C) paucity or absence of cutaneous lesions

This answer is incorrect.

Cutaneous lesions are characteristic of NF1. Lesions include cafe au lait spots, molluscum fobrosum (cutaneous tumors), and freckling in the axillae and groin. A paucity or absence of cutaneous lesions is typical of neurofibromatosis type 2 (NF2).   (See References)

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D) genetic abnormality on chromosome 22

This answer is incorrect.

The genetic defect in NF1 is on chromosome 17. A defect on chromosome 22 is associated with neurofibromatosis type 2 (NF2).   (See References)

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E) ungual fibromata

This answer is incorrect.

Ungual fibromata are not characteristic of NF1. 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 01
Question ID: 021707087
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/17/2007
Modified: 02/17/2007
Estimated Permutations: 84000