“…Aicardi-Goutières syndrome [27] Limited jaw movements/TMJ ankylosis Not available TREX1, 3'-Auriculo-condylar syndrome [28] Limited jaw movements/TMJ Hypoplasia Not available Genetic variance in GNAI3, PLCB4, EDN1 Bilateral Plantar Fibromatosis [29] Pain/arthralgia, myalgia Not available Unknown Calcium pyrophosphate deposition disease [30] Calcified deposits in the TMJ Deposition of calcium pyrophosphate over the TMJ Not genetically determined Cardiocranial syndrome, Pfeiffer type [31] Limited jaw movements/TMJ ankylosis…”
Background: Rare diseases (RDs) are serious often chronic progressive diseases that affect a smaller number of individuals. RDs can manifest in any region of the body and have systemic effects that are detrimental to individual health. Although RDs are individually rare, there are various debilitating disorders arising from RDs. One of the disorders that have been shown to have a negative impact on the health of RD patients is temporomandibular disorders (TMD). There is a dearth of data on the rare diseases and potential manifestations of TMD. The objective of this systematic review is to provide an overview of rare diseases and temporomandibular joint (TMJ) manifestations.Method: The criterion for analysis of a rare disease and temporomandibular manifestations was inclusion in the Orphanet Classification of Rare Diseases and/or the National Organization for Rare Disorders (NORD)/The Genetic and Rare Diseases (GARD) databases. Only rare diseases with TMJ manifestations were recorded.Results: A total of 54 RDs with TMJ manifestations and different TMD diagnoses were recorded. There were thirty-five studies derived from the Pubmed search, and the Orphanet input had 19 results. Overall, 13 different types of TMJ manifestations and TMD diagnoses were recorded in rare diseases.Conclusion: TMJ manifestations associated with rare diseases are not uncommon. Healthcare professionals can play an important role in diagnosing and managing the complexity of RDs with TMJ manifestations. A multidisciplinary approach to TMD patients with rare diseases is advisable.
“…Aicardi-Goutières syndrome [27] Limited jaw movements/TMJ ankylosis Not available TREX1, 3'-Auriculo-condylar syndrome [28] Limited jaw movements/TMJ Hypoplasia Not available Genetic variance in GNAI3, PLCB4, EDN1 Bilateral Plantar Fibromatosis [29] Pain/arthralgia, myalgia Not available Unknown Calcium pyrophosphate deposition disease [30] Calcified deposits in the TMJ Deposition of calcium pyrophosphate over the TMJ Not genetically determined Cardiocranial syndrome, Pfeiffer type [31] Limited jaw movements/TMJ ankylosis…”
Background: Rare diseases (RDs) are serious often chronic progressive diseases that affect a smaller number of individuals. RDs can manifest in any region of the body and have systemic effects that are detrimental to individual health. Although RDs are individually rare, there are various debilitating disorders arising from RDs. One of the disorders that have been shown to have a negative impact on the health of RD patients is temporomandibular disorders (TMD). There is a dearth of data on the rare diseases and potential manifestations of TMD. The objective of this systematic review is to provide an overview of rare diseases and temporomandibular joint (TMJ) manifestations.Method: The criterion for analysis of a rare disease and temporomandibular manifestations was inclusion in the Orphanet Classification of Rare Diseases and/or the National Organization for Rare Disorders (NORD)/The Genetic and Rare Diseases (GARD) databases. Only rare diseases with TMJ manifestations were recorded.Results: A total of 54 RDs with TMJ manifestations and different TMD diagnoses were recorded. There were thirty-five studies derived from the Pubmed search, and the Orphanet input had 19 results. Overall, 13 different types of TMJ manifestations and TMD diagnoses were recorded in rare diseases.Conclusion: TMJ manifestations associated with rare diseases are not uncommon. Healthcare professionals can play an important role in diagnosing and managing the complexity of RDs with TMJ manifestations. A multidisciplinary approach to TMD patients with rare diseases is advisable.
“…The TMJ is an unusual location to develop pseudogout or CPPD, but cases have been reported in the literature (1–3), and thus awareness of this entity is important for timely and accurate assessment. Benign and malignant lesions arising from the TMJ can have overlapping clinical features, and therefore imaging and pathologic evaluation often play a critical role in diagnosis (4).…”
mentioning
confidence: 99%
“…The etiology of CPPD is often idiopathic but can be hereditary or associated with trauma, surgery, or metabolic or endocrine disorders (6). Surgical excision and intraarticular glucocorticoids are the primary therapy; however, systemic agents, including systemic steroids, colchicine, and NSAIDs, have been used (2,3,5). By recognizing this rare manifestation of CPPD, appropriate evaluation and management can be promptly pursued.…”
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