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A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype
ConclusionThis is the first case of POH phenotype associated with a novel de novo pathogenic frameshift variant inFAM111B. Whether the frameshift change inFAM111B predicts POH remains unclear. Further evaluations are necessary to fully elucidate this finding and the potential role and mechanism by which theFAM111B variants contributes to POH phenotype.
Source: Calcified Tissue International - December 27, 2022 Category: Orthopaedics Source Type: research

P039  Muscle wasting & amp; weakness: a rare presentation of sarcoidosis
Conclusion Symptomatic myopathy is present in only 0.5-2.5% of sarcoidosis patients. This unique case highlights the heterogeneity of this disease and the vital role different diagnostic modalities play in achieving the correct diagnosis. It is also pertinent that the lymphadenopathy, found incidentally via imaging, led to the diagnosis. Although notoriously a diagnosis of exclusion, this case emphasises the importance of considering sarcoidosis even in the absence of respiratory symptoms, a raised ACE or hypercalcaemia.Disclosure C. Tomlinson: None.A. Khan: None.D. Mukerjee: None.N. Bhadauria: None.
Source: Rheumatology - April 26, 2021 Category: Rheumatology Source Type: research