Cartilage-Hair Hypoplasia Questions & Answers

Updated: Aug 06, 2019
  • Author: Alan P Knutsen, MD; Chief Editor: Harumi Jyonouchi, MD  more...
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Questions & Answers

Overview

What is cartilage-hair hypoplasia (CHH)?

What is the pathophysiology of cartilage-hair hypoplasia (CHH)?

What is the prevalence of cartilage-hair hypoplasia (CHH)?

What is the mortality and morbidity associated with cartilage-hair hypoplasia (CHH)?

What are the racial predilections of cartilage-hair hypoplasia (CHH)?

What are the sexual predilections of cartilage-hair hypoplasia (CHH)?

At what age does cartilage-hair hypoplasia (CHH) typically present?

Presentation

Which clinical history findings are characteristic of cartilage-hair hypoplasia (CHH)?

Which physical findings are characteristic of cartilage-hair hypoplasia (CHH)?

What causes cartilage-hair hypoplasia (CHH)?

DDX

What are the differential diagnoses for Cartilage-Hair Hypoplasia?

Workup

Which T-cell immunodeficiency findings are characteristic of cartilage-hair hypoplasia (CHH)?

Which B-cell immunodeficiency findings are characteristic of cartilage-hair hypoplasia (CHH)?

Which hematologic findings are characteristic of cartilage-hair hypoplasia (CHH)?

What is the role of radiography in the workup of cartilage-hair hypoplasia (CHH)?

Which histologic findings are characteristic of cartilage-hair hypoplasia (CHH)?

Treatment

How is immunodeficiency treated in cartilage-hair hypoplasia (CHH)?

How is neutropenia treated in cartilage-hair hypoplasia (CHH)?

What is the role of human growth hormone in the treatment of cartilage-hair hypoplasia (CHH)?

What is the role of surgery in the treatment of cartilage-hair hypoplasia (CHH)?

Which specialist consultations are beneficial to patients with cartilage-hair hypoplasia (CHH)?

Which dietary modifications are used in the treatment of cartilage-hair hypoplasia (CHH)?

Which activity modifications are used in the treatment of cartilage-hair hypoplasia (CHH)?

Medications

What is the IVIG of medications in the treatment of cartilage-hair hypoplasia (CHH)?

Which medications in the drug class Vaccines are used in the treatment of Cartilage-Hair Hypoplasia?

Which medications in the drug class Antiviral Agents are used in the treatment of Cartilage-Hair Hypoplasia?

Follow-up

What is included in the long-term monitoring of cartilage-hair hypoplasia (CHH)?

What is the role of live viral vaccines in the treatment of cartilage-hair hypoplasia (CHH)?

What is the role of acyclovir in the treatment of cartilage-hair hypoplasia (CHH)?

What are the possible complications of cartilage-hair hypoplasia (CHH)?

What is the prognosis of cartilage-hair hypoplasia (CHH)?

What is included in patient education about cartilage-hair hypoplasia (CHH)?