Table 3.

Disorders to Consider in the Differential Diagnosis of Multicentric Osteolysis Nodulosis and Arthropathy (MONA)

GeneDiffDx DisorderMOIFeatures Overlapping w/MONAFeatures Distinguishing from MONA
ANTXR2 Hyaline fibromatosis syndrome (HFS)ARSkin thickening; coarse facies; osteopenia & osteolysis; similar early manifestations in some affected personsIn HFS: hyaline deposits in papillary dermis & other tissues, pearly papules of face & neck, perianal masses, differing pattern of bone involvement
LACC1 Juvenile arthritis (JUVAR) (OMIM 618795)AROnset in childhood, joint deformities, joint contractures, joint pain, joint swellingIn JUVAR: erosive arthritis, ↑ markers of inflammation; fever &/or erythematous rash in some persons
In MONA: subcutaneous nodules, gingival hypertrophy
MAFB Multicentric carpal tarsal osteolysis ± nephropathy (MCTO) (OMIM 166300)ADOsteolysis of carpal & tarsal bones; joint swelling; onset in infancyIn MCTO: nephropathy (not always present); phalanges less affected
MMP14 1Winchester syndrome (OMIM 277950)ARSimilar phenotypeNone
SH3PXD2B Frank-ter Haar syndrome (FTHS) (OMIM 249420)AROsteolysis, craniofacial anomalies, contracturesIN FTHS: prominent anterior fontanel, bowing of long bones, kyphoscoliosis commonly observed
In MONA: joint deformities noted in all affected persons; cognition normal
TNFRSF11A Familial expansile osteolysis (FEO) (OMIM 174810)ADOsteolysisIn FEO: hearing loss, early loss of dentition, bowing of long bones, ↑ serum alkaline phosphatase & urinary hydroxyproline, differing radiographic appearance

AD = autosomal dominant; AR = autosomal recessive; DiffDx = differential diagnosis; MOI = mode of inheritance

1.

Two families have been reported to date [Evans et al 2012, de Vos et al 2019].

From: Multicentric Osteolysis Nodulosis and Arthropathy

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