Hermansky Pudlak syndrome 2
Overview
A rare disorder characterized by various degrees of albinism, bleeding due to a platelet defect, an accumulation of a waxy substance in cells (lysosomal ceroid storage) and immunodeficiency. HPS type 2 differs from type 1 in that it also involves immunodeficiency due to congenital neutropenia.
Symptoms
* Lack of skin pigmentation * Lack of hair pigmentation * Lack of eye pigmentation * Rapid involuntary eye movements * Sensitivity to light * Hemorrhagic episodes * Mild bleeding * Easy bruising * Nosebleed * Restrictive lung disease * Ulcerative colitis * Albinism * Blood platelet defects * Abnormal blood clotting * Pulmonary fibrosis * Inflammatory bowel disease * Kidney disease * Impaired vision * Cross eyed * Involuntary eye movements * Immunodeficiency * Recurring infections * Recurring neutropenia
Diagnosis
signs and symptoms of Hermansky-Pudlak syndrome type 2 may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Hermansky-Pudlak syndrome type 2 symptoms.