Neurocutaneous Syndromes 03

Topic: Adult

Created on Saturday, February 17 2007 by jdmiles

Last modified on Saturday, February 17 2007.

 
        A) This is an X-linked recessive disorder
 
        B) The skin lesions represent a loss of melanin from epidermal basal cells
 
        C) This findings associated with this disease are less severe in males.
 
        D) The skin lesions represent chronic inflammation in the dermis.
 
        E) This is an autosomal recessive disorder
 

 

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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) This is an X-linked recessive disorder

This answer is incorrect.

This patient's history and skin findings are characteristic of incontinentia pigmenti. This is an X-linked dominant disorder.  (See References)

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B) The skin lesions represent a loss of melanin from epidermal basal cells

This answer is correct.

This patient's history and skin findings are characteristic of incontinentia pigmenti. The skin changes result from melanin lost from epidermal basal sells.  (See References)

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C) This findings associated with this disease are less severe in males.

This answer is incorrect.

This patient's history and skin findings are characteristic of incontinentia pigmenti. This is an X-linked dominant disorder which is usually lethal in males.  (See References)

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D) The skin lesions represent chronic inflammation in the dermis.

This answer is incorrect.

This patient's history and skin findings are characteristic of incontinentia pigmenti. The skin changes result from melanin lost from epidermal basal sells.  (See References)

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E) This is an autosomal recessive disorder

This answer is incorrect.

This patient's history and skin findings are characteristic of incontinentia pigmenti. This is an X-linked dominant disorder.  (See References)

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References:

1. NINDS Ataxia Telangiectasia Information Page, NINDS. http://www.ninds.nih.gov/disorders/a_t/a-t.htm
2. Victor, M., and Ropper, A.H. (2001). Adams and Victor's Principles of Neurology, 7th Edition. McGraw-Hill, New York. Pp. 1060.
3. OMIM database (2004). http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308300

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adult
Neurocutaneous Syndromes 03
Question ID: 02170703
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/17/2007
Modified: 02/17/2007
Estimated Permutations: 0