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Neurocutaneous Syndromes 03

Topic: Adult

Created on Saturday, February 17 2007 by jdmiles

Last modified on Saturday, February 17 2007.

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

A) This is an autosomal recessive disorder

B) This is an autosomal dominant disorder

C) This is an X-linked dominant disorder

D) This is not a genetic disorder

E) This is an X-linked 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

A) 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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B) This is an autosomal dominant 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) This is an X-linked dominant disorder

This answer is correct.

This patient's history and skin findings are characteristic of incontinentia pigmenti. This is an X-linked dominant disorder mapping to a gene at Xq28. (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) 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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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