Cartilage-Hair Hypoplasia Treatment & Management

Updated: Aug 06, 2019
  • Author: Alan P Knutsen, MD; Chief Editor: Harumi Jyonouchi, MD  more...
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Medical Care

The treatment of the immunodeficiency depends on whether an isolated T-cell defect, isolated B-cell defect, or a combined T-cell and B-cell immunodeficiency is present. Some patients with cartilage-hair hypoplasia have only a limited susceptibility to infections, thus need no specific treatment.

Patients with a severe T-cell immunodeficiency with or without concomitant B-cell immunodeficiency are given the same treatment as patients with severe combined immunodeficiency (SCID).

Thus, T-cell immune reconstitution using bone marrow transplantation (BMT) is performed. BMT corrects the immunodeficiency but not the skeletal abnormalities. [37, 38] BMT can prevent lymphoma. Bordon et al reported on the outcome of 16 patients with cartilage hair-hypoplasia who received BMT. [39] Thirteen patients were transplanted in early childhood (~2.5 y) and 3 patients were transplanted at adolescent age. Ten patients, 62.5%, were long-term survivors; T-cell numbers and function were normal. Kavadas et al reported an additional 4 patients with cartilage hair-hypoplasia who had severe T-cell immunodeficiency successfully transplanted with matched unrelated donor stem cells during infancy. [15]

Individuals with an isolated T-cell immunodeficiency have an increased susceptibility to infections, and varicella is the most common, severe, life-threatening infection. Acyclovir is recommended in the treatment of varicella infections. In patients exposed to varicella, prophylaxis with varicella-zoster immune globulin (VZIG), acyclovir, or both can be administered. In the United States, VZIG was discontinued by the manufacturer. An investigational product (VariZIG) is currently available via investigational new drug protocol (contact FFF Enterprises at 800-843-7477). However, prophylaxis with acyclovir in other patients with T-cell impairment who are exposed to varicella may not prevent varicella infection.

The measles mumps rubella (MMR) vaccine may be given in the second year of life in patients with cartilage-hair hypoplasia without severe combined immunodeficiency. Rotavirus vaccine, a live-viral vaccine given in the first year of life, should be avoided.

An attenuated varicella vaccine has been developed as a routine part of childhood immunizations. Some investigators have recommended this vaccine in patients with near-normal T-cell function and normal B-cell function. In this situation, the varicella vaccine may have some protective role in patients with cartilage-hair hypoplasia. However, because it is a live vaccine, it may result in vaccine-related varicella infection. Guidelines for the administration of the vaccine have been established by the Centers for Disease Control and Prevention. [40]

In patients with cartilage-hair hypoplasia with antibody immunodeficiency and recurrent bacterial infections, antibody replacement therapy in the form of intravenous immunoglobulin (IVIG) or, alternatively, subcutaneous gammaglobulin (SCIG), therapy is indicated

Treatment of neutropenia with granulocyte colony-stimulating factor (G-CSF) has been successful in patients with cartilage-hair hypoplasia. [27] Neutropenia is a common feature in individuals with cartilage-hair hypoplasia, occurring as frequently as 27% in a group of 79 Finnish children. The typical mechanism is maturation arrest, but autoimmune neutropenia also occurs. The severity of the neutropenia correlates with the severity of the immunodeficiency and, therefore, contributes to the increased frequency and severity of infections in patients with cartilage-hair hypoplasia. Ammann et al reported that a 3-year-old Japanese boy with cartilage-hair hypoplasia and autoimmune anti-FcgRIIIb (NA 1/2) neutropenia was treated with G-CSF, which improved the boy’s peripheral neutrophil numbers and reduced recurrent bacterial infections. [27]

Conflicting results have been reported in the use of growth hormone to treat 5 patients with cartilage-hair hypoplasia. In a 3-year-old Japanese boy who was treated with growth hormone for 7 years and underwent a leg-lengthening surgical procedure, the height improved from -4.2 standard deviations (SD) to -2.1 SD. [41] In another report of 4 patients with cartilage-hair hypoplasia, growth hormone was used to treat 4 patients, consisting of 2 pairs of siblings: a pair of 10-year-old twins (one boy, one girl) and a 7-year-old girl and her 4-year-old sister. [42] The duration of growth hormone therapy was 5 years, 2 years, 5 years, and 6.5 years, respectively. Slight improvement of growth was reported during the first year of growth hormone treatment, varying from 0.2–0.8 SD, but the growth was not sustained, and no gain in final height was reported.

Obara-Moszynska et al reported the use of recombinant human growth hormone in an 8-year-old girl with cartilage hair-hypoplasia. [43] . Recombinant growth hormone rhGH therapy was used for 4 years and 7 months and had a significant effect on height from -4.00 to -2.98 height SD score. [43]


Surgical Care

Various palliative bone reconstruction procedures have been performed in patients with other short-limb dwarfism disorders. Medical and surgical correction for scoliosis may be necessary. Arthroscopy and/or joint replacement surgery may be beneficial. These can also be performed in patients with cartilage-hair hypoplasia. However, the risk of infection in these patients is increased, and extra attention to preventing and treating infections is necessary.



Consult an immunologist to evaluate for immune deficiency. In addition, an orthopedic surgeon should be consulted for bone dysplasia. Genu varum, with or without knee pain, is the most common reason a patient with CHH will seek orthopaedic consultation. [44] A geneticist should also be consulted.



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Skeletal dysplasia significantly impairs the normal activity of these patients. Care directed by orthopedists and physical therapists is necessary to monitor and treat these limitations.