Polycystic bone disease: A new, autosomal dominant disorder

Michael P. Whyte, Mark C. Eddy, Michelle N. Podgornik, William H. Mcalister

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

We describe a new heritable bone disease characterized radiographically by increasingly numerous and enlarging cyst-like lesions throughout the skeleton. Beginning in early childhood, a father, son, and daughter all suffered from progressively frequent pathological fractures involving such radiolucencies. Healing occurred uneventfully and with little residual pain or deformity. Biochemical parameters of mineral homeostasis and skeletal turnover were normal. Bone scanning showed increased radioisotope uptake primarily in fractures and in the largest collections of the lesions. The histopathology is uncertain, but may reflect a form of intraosseous lipomatosis. This unique condition, which we have provisionally named polycystic bone disease, is inherited as an autosomal dominant trait with a high degree of penetrance.

Original languageEnglish
Pages (from-to)1261-1271
Number of pages11
JournalJournal of Bone and Mineral Research
Volume14
Issue number8
DOIs
StatePublished - Aug 15 1999

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