Dysosteosclerosis: A Rare Bone Disease in a Young Girl
Author Information
Author(s): Michael P Whyte, Deborah Wenkert, William H McAlister, Deborah V Novack, Angie R Nenninger, Xiafang Zhang, Margaret Huskey, Steven Mumm
Primary Institution: Shriners Hospital for Children, St Louis, MO, USA
Hypothesis
How osteopenia follows in dysosteosclerosis is an enigma of human skeletal pathobiology.
Conclusion
Dysosteosclerosis is a distinctive osteoclast-poor form of osteopetrosis associated with reduced bone remodeling.
Supporting Evidence
- Dysosteosclerosis features short stature and fractures, similar to osteopetrosis.
- The patient showed significant skeletal abnormalities including metaphyseal widening and sclerosis.
- Bone histology revealed unresorbed primary spongiosa and a lack of osteoclasts.
Takeaway
Dysosteosclerosis is a rare bone disease that makes bones very dense but also very fragile, leading to fractures.
Methodology
The study involved clinical, biochemical, radiologic, histopathologic, and genetic investigations of a young girl with dysosteosclerosis.
Limitations
The genetic basis for dysosteosclerosis remains unclear, and the study is based on a single case.
Participant Demographics
The participant was a 3-year-old American girl.
Digital Object Identifier (DOI)
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