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Neurocutaneous Syndromes 03

Topic: Adult

Created on Saturday, February 17 2007 by jdmiles

Last modified on Saturday, February 17 2007.


Image (C) 2000-2005 Auckland District Health Board

You are called to evaluate a newborn girl with unusual skin findings shown in the images above.
The patient's mother suffers from seizures, dental abnormalities, and mental retardation.
Which of the following statements about this child's condition are true?

 
        A) The skin lesions represent a loss of melanin from epidermal basal cells
 
        B) This is an autosomal recessive disorder
 
        C) The skin lesions represent increased melanin in the epidermal basal cells.
 
        D) This is not a genetic disorder
 
        E) The skin lesions represent chronic inflammation in the dermis.
 

 


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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




A) 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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B) 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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C) The skin lesions represent increased melanin in the epidermal basal cells.

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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D) This is not a genetic 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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E) 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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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

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