Chediak-Higashi Syndrome. Presented by Robert A. Clark, MD.
A 20-year-old white man has had numerous subcutaneous abscesses caused by Staphylococcus aureus since the age of 3. He also has had many respiratory tract infections. Other features of his disease include partial oculocutaneous albinism, photophobia, nystagmus, and retinal degeneration. Family history reveals that his parents are first cousins and that a brother has the same disease.Scars from healed abscesses are over the trunk and extremities. Partial ocular albinism is seen with the aid of a flashlight. A silvery sheen is observed when he does not dye his hair.Laboratory examination revealed an average granulocyte count of 1,700/cu mm. Large cytoplasmic inclusions are present in the leukocytes.
Dr. Robert A. Clark: The Chediak-Higashi syndrome is a rare inherited disorder characterized by partial oculocutaneous albinism, marked susceptibility to pyogenic infections, and unusual giant cytoplasmic granules in a number of cell types.
Katz R. ATLANTIC DERMATOLOGICAL CONFERENCE. Arch Dermatol. 1972;106(2):253–257. doi:10.1001/archderm.1972.01620110079021
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: