Pycnodysostosis (Pyknodysostosis)

  • Medical Reviewer: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

What is the treatment for pycnodysostosis?

Bone fractures are a big problem for patients with pycnodysostosis. They can occur with minimal stress. It is important that the disease be diagnosed and the tendency to fractures be recognized so that (1) fractures can be minimized, if not entirely prevented; and (2) the parents and other caregivers are not falsely accused of child abuse! As with any condition causing brittle bones, the infant should be handled with a reasonable degree of care. The older child should be encouraged to engage in safer forms of exercise such as swimming rather than, for example, jumping on a trampoline.

In 1996, Soliman and colleagues reported that there is defective secretion of growth hormone in pycnodysostosis. Replacement treatment with growth hormone was then tested. It was found to increase the growth of the length of bones (linear growth). Since short stature is an important consequence of pycnodysostosis, growth hormone treatment may prove very useful.

Medically reviewed by Aimee V. HachigianGould, MD; American Board of Orthopaedic Surgery

REFERENCE:
"Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency."
Gelb BD, Shi GP, Chapman HA, Desnick RJ
Science

Medically Reviewed by a Doctor on 4/13/2015

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