The Freckled Girl

 

A 6 y.o. girl is brought to your office for evaluation of "skin tags". She was the product of a normal delivery and had normal developmental milestones. In the last year she has begun to develop numerous subcutaneous nodules which are soft and freely mobile. Some of the nodules have been superficial enough to form "skin tags" and have become embarrassing for the young patient.

Her physical and neurological examinations are normal except for the skin tags and a number of cafë-au-lait spots with a "Coast of California" border. She also has prominent freckles in non-sun-exposed areas such as her axilla. Her father accompanies her to the office and, on questioning, reports that he also has cafë-au-lait spots.

Questions:

  1. This patient has the most common neurocutaneous syndrome. However t here are two types of this syndrome (Type I and Type II). Which type does the patient have and how can you tell the two types apart?

  2. Name at least three associated neurological complications of the condition affecting this patient?

  3. Predict what would happen to the patient's skin tags without treatment? Should you have the patient's hearing tested?

  4. Define the genetic abnormality underlying this syndrome. Which chromosome is affected, which protein is affected and how does an abnormality of that protein result in the manifestations of the syndrome and its neurological complications?
Last updated by Webmaster on August 18, 2009

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