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Results for “OSTEOSCLEROSIS”

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At least 163 records · Page 9Linked to original sources
PubMed1992

Radiographic investigation of idiopathic osteosclerosis of the jaws in Japanese dental outpatients.

Panoramic radiographs of 1203 Japanese patients were examined to detect idiopathic radiopaque foci of dense bone. One hundred seventeen patients (9.7%) exhibited 134 such lesions. The majority (97%) of the opacities were found in the mandible, especially in the mandibular first premolar to second molar region (85.4%). The lesion was most prevalent in the first three decades of life.

Chi-Square Distribution↗
PubMed2003

A novel AIRE mutation in an APECED patient with candidiasis, adrenal failure, hepatitis, diabetes mellitus and osteosclerosis.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder, which is characterized by an immune-mediated destruction of endocrine tissues, chronic candidiasis and ectodermal disorders. In contrast to many other autoimmune diseases, APECED is associated with mutations of a single gene, designated autoimmune regulator (AIRE). We describe an APECED patient with severe deformities of the tibia with radiological signs of metaphyseal dysplasia in addition to candidiasis, hepatitis, diabetes mellitus and adrenal failure. In this patient, we identified a novel AIRE mutation in association with the C322fsX372 mutation in exon 8, which is frequently detected in Caucasian patients. The frame shift mutation G263fsX377 in exon 6 results in a protein lacking both PHD zinc-finger domains similar to the R257 X mutation. This novel mutation was not found in 50 German controls.

Adrenal Insufficiency↗