Clinical Guidance
Multicentric osteolysis nodulosis and arthropathy (MONA) is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (contractures, pain, joint swelling/stiffness). Other manifestations include pigmented lesions on the skin, coarse facies, corneal opacities, and cardiac defects. Most affected children are apparently normal at birth. Onset is usually between ages six months and six years ; the range is from birth to 11 years . To date, 51 individuals have been identified with biallelic pathogenic variants in MMP2 [, , , , , , , , , , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Multicentric Osteolysis Nodulosis and Arthropathy: Frequency of Select Features
Feature | % of Persons w/Feature | Comment |
|---|
Joint disease | ~100% | — |
Progressive osteolysis | 100% | Onset in the first few years of life |
Osteopenia | 100% | — |
Coarse facial features | ~86% | — |
Gingival hypertrophy | ~35% | — |
Subcutaneous nodules | ~80% | — |
Congenital heart disease | 30% | Joint manifestations. Peripheral joints are more involved than proximal joints. Small joints of the hands and feet are the most obvious sites of involvement. Progressive bone destruction leads to pain, swelling, stiffness, and later flexion contractures (, ). |
Source: GeneReviews — "Multicentric Osteolysis Nodulosis and Arthropathy"
