Jaws Features in Type 1 Gaucher Disease

Zeevi, Itai; Anavi, Yakir; Kaplan, Ilana; Zadik, Yehuda

doi:10.1016/j.joms.2012.09.020

Cited by 13 publications

(26 citation statements)

References 35 publications

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“…Infiltration of Gaucher cells in tissues can be associated with systemic pathology such as hepatosplenomegaly, pancytopenia, skin pigmentation, neurologic symptoms, osteoporosis and severe bone pain [ 3 ]. Oral pathology can also be observed in Gaucher disease, and includes jaw lesions, delayed eruption of permanent teeth, oral yellow pigmentation, hyposalivation, dental pain and mobility, sinusitis, and osteomyelitis [ 4 ]. Bone involvement in Gaucher disease is seen in more than 90% of affected patients [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

“…Oral pathology can also be observed in Gaucher disease, and includes jaw lesions, delayed eruption of permanent teeth, oral yellow pigmentation, hyposalivation, dental pain and mobility, sinusitis, and osteomyelitis [ 4 ]. Bone involvement in Gaucher disease is seen in more than 90% of affected patients [ 4 ]. Long bone involvement is common, causing pain and restriction of mobility [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

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Gaucher disease with jawbone involvement: a case report

2014

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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 bones by histopathologic evidence are even rarer.Case presentationA 46-year-old Caucasian Ashkenazi Jewish woman with Gaucher disease presented with jawbone pain and lytic radiographic lesions of her mandible. Surgical biopsy of a mandibular lesion revealed Gaucher cells infiltrating the mandible, which correlated with radiographic and clinical findings, supporting a diagnosis of Gaucher disease with jawbone involvement.ConclusionsLysosomal storage diseases can have head and neck manifestations, and bone involvement in Gaucher disease is common. Therefore, careful consideration of signs and symptoms and medical history, with a thorough review of systems, is important when evaluating patients with lysosomal storage disorders to rule out head and neck involvement of disease. Biopsy may be warranted in some cases for more definitive diagnosis of painful jawbone lesions and to rule out other odontogenic and non-odontogenic conditions in the differential diagnosis.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Gaucher disease with jawbone involvement: a case report

2014

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“…Oral and dental abnormalities are less common, but jaws involvement might be observed, as well as delayed eruption of permanent teeth, yellow pigmentation of the oral mucosa, petechiae, hyposalivation, dental pain, sinusitis, and osteomyelitis [20,41,46,48].…”

Section: Gaucher's Diseasementioning

confidence: 99%

“…More than 90% of affected patients are diagnosed with bone involvement [16,41,46]. Jaw lesions are often asymptomatic and can be detected as an incidental finding on routine dental radiographs [7].…”

Section: Gaucher's Diseasementioning

confidence: 99%

Manifestations of lysosomal storage diseases in the stomatognathic system – a literature review

Machut¹,

Zółtowska²

2019

jos

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The stomatognathic system comprises the mouth, teeth, jaws, pharynx, and related structures associated with mastication, swallowing, and speech. Lysosomal storage diseases (LSDs) are metabolic disorders, which cause an increase of systemic complication and are even life-threatening. They may also lead to a change in the socioeconomic conditions of people suffering from these diseases, and their families. LSDs are inherited in an autosomal recessive pattern. Many syndromes of lysosomal diseases represent anomalies of the craniofacial region and in the oral cavity. For the vast majority, treatment is not required, but for some of them it is necessary to reconstruct the morphology or the proper function. The appearance of the face can have a negative impact on the quality of the patient's life. Breathing, chewing, speaking, smiling, and mimic movements are the consequences of facial deformities. Irregularities of the sensory organs can sometimes be observed-especially of hearing, smell, and sight. The most frequent manifestations of lysosomal diseases in the oral cavity are malocclusion, macroglossia, tooth eruption, and development disorders as well as periodontal disorders, for instance hypertrophy of the gingiva. The population of people suffering from lysosomal diseases often have specific oral health needs compared to the population of generally healthy people.

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“…Apparently, the loss of corticalization of the mandibular canal, thinning of the cortical and hard lamina, obliteration of the maxillary sinus can be attributed to this process, observing other phenomena caused by the massive infiltration of Gaucher cells, which radiographically appear well-defined cells, circumscribed radiolucent lesions, similar to other cysts and tumors in the mandible. This lesion may present a soap bubble aspect (10.8 %), dislocate mandibular canal or teeth and root resorption (Zeevi et al, 2013). Wenstrup et al (2002) conceptualize two types of bone manifestations associated with Gaucher disease: Extra gnathic bone pathology, which breaks down into: 1.…”

Section: Introductionmentioning

confidence: 99%