Patient case (clinical description): A 4-year-old boy comes to the office for the follow up of his confirmed oculocutaneous albinism.  The patient was born at 38 weeks gestation with no complications.  Vital signs are normal.  Weight and height are at the 50th percentile.  On examination, iris transillumination is present, and there are no apparent foveae on funduscopic examination.  Optic nerves are small and gray.  All the hairs including eyebrows and lashes are white.

Patient's own account: I brought my four-year-old son to his follow-up consultation for his albinism. All his hair is white, even lashes and eyebrows. My baby was born at 38 weeks pregnant with no complications whatsoever. During the consultations his vitals were normal and now his weight and height are at the 50th percentile. The doctor did an eye exam and it seems that his iris has a kind of transillumination, and there are no foveae. The doctor told me that his optic nerves are small and gray.

Clinical trial: Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

Eligibility criteria:
-  INCLUSION CRITERIA:

        To be eligible for this protocol, participants must:

          -  Have a molecular diagnosis of HPS-1 or HPS-4

          -  Be 18-70 years of age

          -  Have the expectation to live more than 3 months, i.e., an FVC greater than or equal to
             30% of predicted

          -  Have evidence of severe pulmonary fibrosis, i.e.:

               1. A FVC less than or equal to 45% of predicted

               2. Reduced exercise tolerance lasting longer than 1 week on the Dyspnea Perception
                  Scale

               3. No evidence of improvement in pulmonary fibrosis within the past year, as defined
                  by an FVC increase of 10% or a DLco increase of 15%.

          -  Be available, willing, and able to come to the NIH Clinical Center for admission every
             3 months.

        EXCLUSION CRITERIA:

          -  An explanation for interstitial lung disease other than HPS, including but not limited
             to radiation, sarcoidosis, hypersensitivity pneumonitis, bronchiolitis obliterans
             organizing pneumonia, cancer

          -  Pregnancy or lactation

          -  History of ethanol abuse or recreational drug use in the past two years

          -  History of human immunodeficiency virus (HIV) or chronic viral hepatitis infection

          -  Chronic use of high-dose steroids (greater than 10 mg prednisone/day) intended for
             ongoing treatment of their interstitial lung disease

          -  Use of any of the following within 28 days of enrollment: investigational therapy,
             cytotoxic/immunosuppressive agents other than corticosteroids, including but not
             limited to azathioprine, cyclosphosphamide, methotrexate, cyclosporine, colchicine,
             interferon gamma-1b, bosentan;

          -  Any severe medical complication including but not be limited to uncontrolled seizures,
             repeated transient ischemic attacks, severe ataxia, uncontrolled migraine headaches,
             diplopia, repeated episodes of syncope, an untreated psychiatric disorder, recent
             myocardial infarction (past 6 months), unstable angina, clinically relevant and
             untreated arrhythmias, uncontrolled hypotension or hypertension (systolic blood
             pressure less than 80 or greater than 180 mm Hg), myocarditis, severe congestive left
             sided heart failure, hepatomegaly not due to right heart failure, renal glomerular
             impairment (creatinine clearance less than 35 ml/min/1.73 m(2)), pancreatitis, toxic
             thyroiditis, life-threatening malignancy;NOTE: right sided heart failure due to
             pulmonary hypertension as a result of pulmonary fibrosis will not be considered an
             exclusion criteria.

          -  Significant laboratory abnormalities, including but not limited to serum potassium
             less than 3.0 or greater than 5.4 mEq/L, SGPT greater than 100 U/L, CK greater than
             700 U/L, hemoglobin less than 9.0 g/dL, platelets less than 70 k/mm(3), leukocyte
             count less than 2.0 k/microL;

          -  For women of child-bearing age, failure to have an effective method of birth control.
             Oral contraceptives will be considered inadequate without a second method due to risk
             of reduced efficacy of BCP while taking Zileuton.

          -  Severe psychiatric disease untreated. Inability to give informed consent after reading
             or having the consent read to the participant in their native language. Any concern
             that there is a therapeutic misconception will be evaluated by genetic counselor
             and/or appropriate mental health professionals prior to acceptance into the study
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 18 Years old.
Subject must be at most 70 Years

Eligibility (NLI label): Contradiction