Hermansky-Pudlak syndrome without pulmonary fibrosis

Hermansky-Pudlak syndrome without pulmonary fibrosis is a form of a multi-system disorder that affects several parts of the body. This condition includes three relatively mild types (HPS-3, HPS-5, and HPS-6) of Hermansky-Pudlak syndrome. People with this condition may show signs of ocular or oculocutaneous albinism, which means they can have lighter skin, hair, or eye color. They also have a tendency to bleed easily, and in some cases, inflammation in the colon called granulomatous colitis can occur. The symptoms are due to a disorder that affects various systems of the body. The overall clinical picture points to a condition that, while involving several challenges, is considered relatively mild compared to other forms that include lung complications. Management of the condition is based on the symptoms that appear and careful monitoring by healthcare providers.

Common signs in people with this condition include ocular or oculocutaneous albinism, which may present as lighter skin, hair, or eyes, along with potential vision issues. A tendency to bleed easily is also a noted feature. Additionally, some people might experience inflammation of the colon, known as granulomatous colitis.

Information about causes is currently limited for this condition.

Information about treatment options is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.