Dermatologic Manifestations of Hermansky-Pudlak Syndrome Questions & Answers

Updated: Dec 13, 2019
  • Author: Jaclyn Scholtz, MD; Chief Editor: Dirk M Elston, MD  more...
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Questions & Answers

Overview

What is Hermansky-Pudlak syndrome (HPS)?

What is the pathophysiology of Hermansky-Pudlak syndrome (HPS)?

What causes Hermansky-Pudlak syndrome (HPS)?

What is the US prevalence of Hermansky-Pudlak syndrome (HPS)?

What is the global prevalence of Hermansky-Pudlak syndrome (HPS)?

What are the racial predilections of Hermansky-Pudlak syndrome (HPS)?

What are the sexual predilections of Hermansky-Pudlak syndrome (HPS)?

At what age is Hermansky-Pudlak syndrome (HPS) typically diagnosed?

What is the prognosis of Hermansky-Pudlak syndrome (HPS)?

What is included in patient education about Hermansky-Pudlak syndrome (HPS)?

Presentation

Which GI history findings are characteristic of Hermansky-Pudlak syndrome (HPS)?

Which pulmonary history findings are characteristic of Hermansky-Pudlak syndrome (HPS)?

Which ocular history findings are characteristic of Hermansky-Pudlak syndrome (HPS)?

What is the focus of clinical history in the evaluation of Hermansky-Pudlak syndrome (HPS)?

Which ocular findings are characteristic of Hermansky-Pudlak syndrome (HPS)?

Which physical findings are characteristic of Hermansky-Pudlak syndrome (HPS)?

Which cutaneous findings are characteristic of Hermansky-Pudlak syndrome (HPS)?

Which pulmonary and cardiac findings are characteristic of Hermansky-Pudlak syndrome (HPS)?

What are the possible complications of Hermansky-Pudlak syndrome (HPS)?

DDX

What are the differential diagnoses for Dermatologic Manifestations of Hermansky-Pudlak Syndrome?

Workup

What is the role of lab tests in the workup of Hermansky-Pudlak syndrome (HPS)?

What is the role of CT scanning in the workup of Hermansky-Pudlak syndrome (HPS)?

What is the role of ophthalmic evaluation in the workup of Hermansky-Pudlak syndrome (HPS)?

What is the role of intellectual testing in the workup of Hermansky-Pudlak syndrome (HPS)?

What is the role of pulmonary function tests (PFTs) in the workup of Hermansky-Pudlak syndrome (HPS)?

What is the role of bone density testing in the workup of Hermansky-Pudlak syndrome (HPS)?

What is the role of biopsy in the workup of Hermansky-Pudlak syndrome (HPS)?

Which histologic findings are characteristic of Hermansky-Pudlak syndrome (HPS)?

Treatment

How is Hermansky-Pudlak syndrome (HPS) treated?

What is the role of surgery in the treatment of Hermansky-Pudlak syndrome (HPS)?

Which specialist consultations are beneficial to patients with Hermansky-Pudlak syndrome (HPS)?

Which dietary modifications are used in the treatment of Hermansky-Pudlak syndrome (HPS)?

Which activity modifications are used in the treatment of Hermansky-Pudlak syndrome (HPS)?

How is Hermansky-Pudlak syndrome prevented?

What is included in the long-term monitoring of Hermansky-Pudlak syndrome (HPS)?

Medications

What is the role of medications in the treatment of Hermansky-Pudlak syndrome (HPS)?

Which medications in the drug class Hemostatic Agents are used in the treatment of Dermatologic Manifestations of Hermansky-Pudlak Syndrome?