Albinismo   Italiano

«Login»  «Home»  «Blog»  «Forum»  «Guestbook» 

» About us
» Register
» Contacts
» Info
   » What is Albinism?
   » Clinical Manifestation
   » Clinical signs
   » Classification
      » Oculocutaneous Albinism
      » Ocular Albinism
   » Associated Syndromes
      » Hermanski-Pudlak
      » Chediak-Higashi
      » Griscelli-Prunieras
   » Therapy
   » Chiedi un consulto
» Insights
» activities and projects
» Our meetings
   » 2009 - Villanovaforru
   » 2011 - Roma
   » 2012 - Roma
   » 2013 - Caltanissetta
» National conferences and events
   » 2009 - Villanovaforru
   » 2011 - Roma
   » 2012 - Roma
   » 2013 - Caltanissetta
   » 2018 - Milano
» Other events
» Social and psychological aspects
» Life experiences
» Centres of national importance
» Diagnosis and treatment centres
» Centres of visual impairment
» Press, tele-radio broadcasting and web
» Helpful resources
   » Associations
   » Helpful links
   » Other web resources
   » Video
   » Agreements
» Thanks

Google Search


Social network
Contact us on Facebook

9876 users online

Hermansky-Pudlak's Syndrome

Characterized by the association of generalized tyrosinase positive albinism and platelet dysfunction (absence of platelet dense bodies) and accumulation of ceroid in tissue.
It is common in these patients to find a bleeding diathesis that in most cases occurs with epistaxis and prolonged bleeding time.
Choroid material can accumulate in the tissue producing: fibrotic restrictive lung disease, inflammatory bowel disease (granulomatous colitis), renal failure and cardiomyopathy during the third, fourth decade of life.
Behind this form there is a deficit in the accumulation of granules in platelets, which do not undergo aggregation when stimulated.
The severity of bleeding is extremely variable, ranging from minor bruises, epistaxis, hemoptysis, gums bleeding while brushing the teeth until endangering bleeding for the life of the patient.

  » Hermansky-Pudlak's Syndrome
  » Management of the patient suffers from Hermansky-Pudlak's syndrome

Top of the page

Valid XHTML 1.0 Transitional

Valid CSS!

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. Permissions beyond the scope of this license may be available at