Cartilage-hair hypoplasia

Cartilage hair hypoplasia affects bone metaphyses causing small stature from birth. It is associated with fine, slow-growing hair, and sometimes immune deficiencies. Other symptoms include short hands and possibly short, deformed limbs (varus). X-rays evidence metaphyseal lesions, especially in the knees, and large, round epiphyses during childhood. The outcome of the disorder depends on immune deficiency and its possible association with Hirschprung's disease. Short stature is common and has very early onset, while immune deficiencies are absent in some forms.

Therapeutic options

  • CHH patients usually have infection problems, especially with varicella, which may be treated with acyclovir. Live viral vaccines should be avoided, such as oral polio and measles, mumps, and rubella (MMR). Other infections are treated with appropriate antimicrobials. Also palliative bone reconstruction procedures may be performed in patients with CHH, in case is needed. IVIG of 400-600 mg/kg/mo or a dose that maintains trough serum IgG levels greater than 500 mg/dL is desirable.
  • Cartilage-hair hypoplasia, eMedicine

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