eMedicine Specialties > Pediatrics: General Medicine > Allergy & Immunology

Cartilage-Hair Hypoplasia: Follow-up

Author: Alan P Knutsen, MD, Professor of Pediatrics, Director of Pediatric Allergy and Immunology, Director of Pediatric Clinical Immunology Laboratory, Department of Pathology, St Louis University Health Sciences Center
Contributor Information and Disclosures

Updated: May 19, 2009

Follow-up

Further Outpatient Care

  • In children, the greatest mortality rate associated with cartilage-hair hypoplasia (CHH) occurs in young patients with severely impaired T-cell immune function. These patients should probably be evaluated yearly during early childhood. Closely monitor T-cell and B-cell immune function in these patients.
  • In adults, the greatest morbidity and mortality is related chronic lung disease secondary to their immunodeficiency. In addition, the risk for malignancy, such as lymphoma, increases with age. Yearly CBC count to monitor for lymphoma is recommended.

Inpatient & Outpatient Medications

  • Live viral vaccine should be avoided.
  • Some investigators have suggested prophylactic use of acyclovir. However, no long-term studies have studied acyclovir prophylaxis in patients with cartilage-hair hypoplasia. A few studies have used short-term acyclovir prophylaxis in patients who have undergone bone marrow transplantation (BMT), in patients with renal disease receiving corticosteroids, and in healthy patients postexposure to varicella.
  • In patients who have undergone BMT, acyclovir prophylaxis administered for 6 months posttransplantation reduced the incidence of varicella infection from 13% to 0%.31

Complications

  • Numerous orthopedic complications present problems for patients with short-limb dwarfism.
  • Susceptibility to infections may be increased because of impaired T-cell and B-cell immunity. 
  • Risk of malignancy, especially leukemia and lymphoma, has been reported;
  • Risk of GI obstruction in infancy, especially due to Hirschsprung disease, needs to be monitored.

Prognosis

  • Mortality rates among young patients with cartilage-hair hypoplasia are greatest in those with severely impaired T-cell immunity. Similarly, development of lymphoma also correlates with the severity of impaired cellular immunity.

Patient Education

  • Patients and their families should be educated regarding the problems associated with cartilage-hair hypoplasia. In particular, provide information concerning the immune deficiency, immune system, and immune defect. The family should be taught the risks of infections, how to recognize signs and symptoms of infections, and the importance of prompt treatment of infections. 
  • An excellent resource for parents and patients with primary immunodeficiency disorders is the Immune Deficiency Foundation (IDF). This is a foundation for the public started by Marcia Boyle in Baltimore, Maryland, with a medical advisory board consisting of recognized experts in the field of immunodeficiency. Educational material for families can be obtained from the IDF. Many cities throughout the United States have local chapters.  Immune Deficiency Foundation
    40 W. Chesapeake Avenue, Suite 308
    Towson, MD 21204
    Tel: 800-296-4433; Fax: 410-321-9165
    Email: idf@primaryimmune.org
  • An additional resource for families with children with primary immunodeficiency disorders is The Jeffrey Modell Foundation.Jeffrey Modell Foundation
    747 3rd Avenue
    New York, NY10017
    Tel: 1-800-JEFF-855

Miscellaneous

Medicolegal Pitfalls

  • Failure to confirm diagnosis and to provide appropriate treatment is a pitfall; because cartilage-hair hypoplasia is a congenital primary immunodeficiency that affects the T-cell and B-cell immune system, patients with cartilage-hair hypoplasia are susceptible to life-threatening infections.
 


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References
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References

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Further Reading

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Keywords

cartilage-hair hypoplasia, CHH, short-limb dwarfism, metaphyseal dysplasia, spondyloepiphyseal dysplasia, immunodeficiency, metaphyseal chondrodysplasia McKusick type, T-cell immunodeficiency, isolated B-cell immunodeficiency, varicella infection, severe combined immunodeficiency, SCID, leukemia, lymphoma, graft versus host disease, non-Hodgkin lymphoma, basal cell carcinoma, anal stenosis, esophageal atresia, treatment, diagnosis

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Contributor Information and Disclosures

Author

Alan P Knutsen, MD, Professor of Pediatrics, Director of Pediatric Allergy and Immunology, Director of Pediatric Clinical Immunology Laboratory, Department of Pathology, St Louis University Health Sciences Center
Alan P Knutsen, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology and Clinical Immunology Society
Disclosure: Nothing to disclose.

Medical Editor

James M Oleske, MD, MPH, François-Xavier Bagnoud Professor of Pediatrics, Director, Division of Pulmonary, Allergy, Immunology and Infectious Diseases, Department of Pediatrics, New Jersey Medical School
James M Oleske, MD, MPH is a member of the following medical societies: Academy of Medicine of New Jersey, American Academy of Pediatrics, American Public Health Association, American Society for Microbiology, Infectious Diseases Society of America, and Pediatric Infectious Diseases Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

John Wilson Georgitis, MD, Consulting Staff, Lafayette Allergy Services
John Wilson Georgitis, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American College of Chest Physicians, American Lung Association, American Medical Writers Association, and American Thoracic Society
Disclosure: Nothing to disclose.

CME Editor

David Pallares, MD, Clinical Assistant Professor, Department of Pediatrics, Division of Allergy and Immunology, University of Louisville
David Pallares, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology
Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD, Associate Professor, Division of Pulmonary Allergy/Immunology and Infectious Diseases, Department of Pediatrics, UMDNJ-New Jersey Medical School
Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Mucosal Immunology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

 
 
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