Medical Care
No treatment is available for hypopigmentation in the skin, the hair, or the eyes. The use of broad-spectrum sunscreens and clothing is recommended to prevent ultraviolet-induced damage to the skin. Visual impairment can be improved by using corrective lenses.
Most therapy for Chediak-Higashi syndrome and Griscelli syndrome is symptomatic in nature. Appropriate antibiotics should be administered to treat infections. Bone marrow transplantation can correct and improve hematologic and immunologic defects in persons with Chediak-Higashi syndrome and Griscelli syndrome, respectively.
No therapy is effective for the nonpigmentary disorders of Hermansky-Pudlak syndrome. If the bleeding diathesis is extreme, platelet and blood transfusions may be considered. If the granulomatous colitis or the pulmonary fibrosis becomes extreme, high-dose steroids may be considered.
Long-Term Monitoring
Patients with oculocutaneous albinism should be frequently screened for skin cancer. [22, 23]
Patients with Chediak-Higashi syndrome, Hermansky-Pudlak syndrome, and Griscelli syndrome should be routinely monitored for advancement of the nonpigmentary disorders.
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Infant with oculocutaneous albinism type 1 presenting with hypomelanotic skin, white hair, and pink irides and pupils resulting from the dysfunction of tyrosinase in the melanocytes of these tissues and the subsequent lack of melanin synthesis. From Carden et al, Br J Ophthal, 1998, 82:189-195, with permission from BMJ Publishing Group.
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Neonate with oculocutaneous albinism type 3 presenting with minimally pigmented skin and light hair coloration resulting from the dysfunction of tyrosinase-related protein-1 in the melanocytes of these tissues and the subsequent reduction in melanin synthesis. The infant's parents are African American. From Carden et al, Br J Ophthal, 1998, 82:189-195, with permission from BMJ Publishing Group.
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Infant with Chediak-Higashi syndrome presenting with hypomelanotic skin and white hair with a metallic sheen. From Carden et al, Br J Ophthal, 1998, 82:189-195, with permission from BMJ Publishing Group.
