The syndrome of Hermansky-Pudlak is a very rare Genetic disease implying several bodies of the body characterized by a Albinisme, disorders hemorrhagic by plate disorder and in some cases a pulmonary Fibrose and a membranous Colite.

Albinism, in addition to the reduction of the pigmentation of the skin and the hair, implies the eye with pigmentary reduction of the iris and the Rétine being accompanied by a significant reduction in the vision.
The bleedings are frequent appearing by épistaxis, bleedings Gingivaux, prolonged Menstruation S, hemorrhages of the delivery.
The pulmonary fibrosis begins towards the 30 years age and involves in 10 years the décès.
The membranous Colite is serious in 15% of the people reached.

Sources

• Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 203300 * Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 608233 * GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005