Chediak-Higashi Syndrome Questions & Answers

Updated: Aug 08, 2019
  • Author: Roman J Nowicki, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Questions & Answers

Overview

How is Chédiak-Higashi syndrome (CHS) characterized?

What is Chédiak-Higashi syndrome (CHS)?

When was Chédiak-Higashi syndrome (CHS) first identified?

What is the pathophysiology of Chédiak-Higashi syndrome (CHS)?

What causes Chédiak-Higashi syndrome (CHS)?

What is the prevalence of Chédiak-Higashi syndrome (CHS)?

What are the racial predilections of Chédiak-Higashi syndrome (CHS)?

At what age does Chédiak-Higashi syndrome (CHS) typically present?

What is the prognosis of Chédiak-Higashi syndrome (CHS)?

What is included in patient education about Chédiak-Higashi syndrome (CHS)?

Presentation

Which clinical history findings are characteristic of Chédiak-Higashi syndrome (CHS)?

Which physical findings are characteristic of Chédiak-Higashi syndrome (CHS)?

Which physical findings are characteristic of hemophagocytic lymphohistiocytosis (HLH) in patients with Chédiak-Higashi syndrome (CHS)?

Which physical findings are characteristic of a less severe form of Chédiak-Higashi syndrome (CHS)?

Which physical findings of albinism are characteristic of Chédiak-Higashi syndrome (CHS)?

How are skin infections characterized in Chédiak-Higashi syndrome (CHS)?

What are the signs and symptoms of Chédiak-Higashi syndrome (CHS)?

Which periodontal findings are characteristic of Chédiak-Higashi syndrome (CHS)?

Which neurologic findings are characteristic of Chédiak-Higashi syndrome (CHS)?

What are the possible complications of Chédiak-Higashi syndrome (CHS)?

DDX

Which conditions are included in the differential diagnoses of Chédiak-Higashi syndrome (CHS)?

What are the differential diagnoses for Chediak-Higashi Syndrome?

Workup

How is Chédiak-Higashi syndrome (CHS) diagnosed?

What is the role of imaging studies in the workup of Chédiak-Higashi syndrome (CHS)?

What is the role of periodontal biopsy in the workup of Chédiak-Higashi syndrome (CHS) diagnosed?

What is the role of ultrasonography in the workup of Chédiak-Higashi syndrome (CHS)?

How is Chédiak-Higashi syndrome (CHS) diagnosed prenatally?

Which histologic findings are characteristic of Chédiak-Higashi syndrome (CHS)?

Treatment

What is the role of hematopoietic stem cell transplantation (HSCT) in the treatment of Chédiak-Higashi syndrome (CHS)?

How is Chédiak-Higashi syndrome (CHS) treated?

How is Chédiak-Higashi syndrome (CHS) treated?

What is included in ongoing surveillance of patients with Chédiak-Higashi syndrome (CHS)?

Why should NSAIDs be avoided by patients with Chédiak-Higashi syndrome (CHS)?

What is the role of surgery in the treatment of Chédiak-Higashi syndrome (CHS)?

When is patient transfer indicated for the treatment of Chédiak-Higashi syndrome (CHS)?

Which specialist consultations are beneficial to patients with Chédiak-Higashi syndrome (CHS)?

Which activity modifications are used in the treatment of Chédiak-Higashi syndrome (CHS)?

How are complications of Chédiak-Higashi syndrome (CHS) prevented?

What is included in the long-term monitoring of Chédiak-Higashi syndrome (CHS)?

Medications

What is the role of medications in the treatment of Chédiak-Higashi syndrome (CHS)?

Which medications in the drug class Anti-inflammatory agents are used in the treatment of Chediak-Higashi Syndrome?

Which medications in the drug class Antineoplastic agents are used in the treatment of Chediak-Higashi Syndrome?

Which medications in the drug class Immune modulators are used in the treatment of Chediak-Higashi Syndrome?

Which medications in the drug class Antiviral agents are used in the treatment of Chediak-Higashi Syndrome?