2014
DOI: 10.1186/1752-1947-8-360
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Gaucher disease with jawbone involvement: a case report

Abstract: IntroductionGaucher disease is an autosomal recessive systemic condition, and the most common of the lysosomal storage disorders. It is characterized by lipid accumulation in certain cells and organs, particularly macrophages, which appear on light microscopy as ’Gaucher cells’ or vacuolated lipid-laden reticuloendothelial cells. Long bone involvement is common in Gaucher disease, whereas craniofacial bone involvement is extremely rare. Reports confirming the diagnoses of Gaucher disease involving craniofacial… Show more

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Cited by 13 publications
(23 citation statements)
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“…Clinically, it presents bilaterally and symmetrically in long bones. Gaucher's disease, the most common lysosomal storage disease, can also affect the gnathic bones [22]. In Gaucher's disease, a genetic mutation causes lipids to accumulate in different organs, including bones.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Clinically, it presents bilaterally and symmetrically in long bones. Gaucher's disease, the most common lysosomal storage disease, can also affect the gnathic bones [22]. In Gaucher's disease, a genetic mutation causes lipids to accumulate in different organs, including bones.…”
Section: Discussionmentioning
confidence: 99%
“…In Gaucher's disease, a genetic mutation causes lipids to accumulate in different organs, including bones. The histopathologic exam demonstrates vacuolated lipid-laden reticuloendothelial cells (Gaucher's cells) infiltrating the connective tissue with enlarged granular cytoplasm and round displaced nuclei [22]. Furthermore, systemic metabolic and lipid diseases (i.e.…”
Section: Discussionmentioning
confidence: 99%
“…A biópsia pode ser necessária em alguns casos, para o diagnóstico definitivo das lesões dolorosas dos maxilares e a fim de descartar outras condições odontogênicas ou não, no diagnóstico diferencial. 22 Adicionalmente, no grupo de doenças inusuais, Mohammed et al 23 apresentou um caso de osteoma osteóide, que é um tumor ósseo benigno, cuja dor inexplicavelmente foi aliviada pela ingestão de analgésicos. O dilema diagnóstico no caso em questão foi agravado por sua associação incomum com os dentes.…”
Section: Discussionunclassified
“…The mandible is more commonly affected than the maxilla [16]. Various radiographic features in the jaw have been reported, but the most frequent presentations are pseudo-cystic or honeycombed radiolucent lesions, mostly in premolars regions [1,41]. Osteopaenia and loss of trabecularity are commonly observed.…”
Section: Gaucher's Diseasementioning
confidence: 99%