multicentric osteolysis nodulosis & arthropathy (MONA); nodularis arthropathy-osteolysis syndrome (NAO syndrome)
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Introduction
Inherited osteolyses or 'vanishing bone' syndrome Winchester syndrome & NAO syndrome are allelic disorders that form a continuous clinical spectrum.
Epidemiology
- rare
Pathology
- destruction & resorption of affected bones
Genetics
- autosomal recessive
- associated with defects in MMP2
Clinical manifestations
- osteolysis with multicentric involvement
- carpal & tarsal resorption
- crippling arthritic changes
- marked osteoporosis
- palmar & plantar subcutaneous nodules
- distinctive facies