Protocol Number: 00-HG-0153
Patients with CHS have a range of medical problems, including decreased pigment in the skin and eyes, a tendency toward bleeding because of a platelet dysfunction and recurrent infections due to white cell abnormalities. Some patients also have neurologic problems, such as poor sensation in the arms and legs. The only cure for CHS is bone marrow transplantation, but other measures can be taken, such as avoiding aspirin to prevent bleeding episodes. Patients one month or older with decreased pigmentation and either a bleeding abnormality or history of excessive childhood infections may be eligible for this study, which is expected to continue for 5 to 10 years. Participants will be admitted to the NIH Clinical Center for about 5 days every 1 to 3 years, depending on the severity of their conditions, for the following procedures: 1. Medical history, physical examination, complete eye examination and consultations with infectious disease and neurology specialists 2. Blood tests, including routine tests, such as complete blood count, blood chemistries, etc.; tests to look for giant granules and platelet dense bodies; tests to examine white blood cell function; and tests to analyze DNA of the LYST gene 3. 24-hour urine collection to assess kidney function 4. Skin biopsy to study cells called fibroblasts, in which an area of skin is numbed with an anesthetic and a circular area 4 mm in diameter is then removed using a sharp punch and scissors. The wound is then dressed; healing time is usually within a week. 5. Visual evoked response test, in which small electrodes are applied to the scalp (similar to an electroencephalogram). The patient looks at a screen with changing patterns and at flashes of light while the electrical activity of the brain is recorded. Depending on the individual patient's condition, consultations may also be arranged with hematology (blood), dermatology (skin) and pulmonology (lungs). Additional tests may include X-rays, computerized tomography (CT) or magnetic resonance imaging (MRI) of the head, pulmonary function tests to measure breathing capacity, and photographs of the face and body taken with underwear on.
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 01/30/2009
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