Cartilage-Hair Hypoplasia Follow-up

Updated: Aug 09, 2016
  • Author: Alan P Knutsen, MD; Chief Editor: Harumi Jyonouchi, MD  more...
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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.

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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%. [42]

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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.

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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.

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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, NY 10017

Tel: 1-800-JEFF-855

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