Expansile Skeletal Hyperphosphatasia: A New Familial Metabolic Bone Disease

Whyte, Michael P.; Mills, Barbara G.; Reinus, William R.; Podgornik, Michelle N.; Roodman, G. David; Gannon, Francis H.; Eddy, Mark C.; McAlister, William H.

doi:10.1359/jbmr.2000.15.12.2330

Cited by 64 publications

(67 citation statements)

References 29 publications

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“…Mutation screening of TNFRSF11A resulted in the identification of an 18 bp duplication affecting the signal peptide of RANK as the cause of FEO [83] and a similar duplication of 27 bp in the RANK signal peptide as the cause of early-onset familial PDB [83,84]. Subsequently, a duplication of 15 bp in the signal peptide region of RANK was found to be the cause of expansile skeletal hyperphosphatasia, another disease with clinical features that overlap to an extent with those of FEO and early-onset familial PDB [85,86]. These mutations prevent normal cleavage of the RANK signal peptide [83], and this causes the mutated RANK molecules to accumulate in the Golgi apparatus [87].…”

Section: Tnfrsf11amentioning

confidence: 99%

Pathogenesis of Paget Disease of Bone

2012

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Paget disease of bone (PDB) is a common disease characterized by focal areas of increased and disorganized bone turnover. Some patients are asymptomatic, whereas others develop complications such as pain, osteoarthritis, fracture, deformity, deafness, and nerve compression syndromes. PDB is primarily caused by dysregulation of osteoclast differentiation and function, and there is increasing evidence that this is due, in part, to genetic factors. One of the most important predisposing genes is SQSTM1, which harbors mutations that cause osteoclast activation in 5-20 % of PDB patients. Seven additional susceptibility loci for PDB have been identified by genomewide association studies on chromosomes 1p13, 7q33, 8q22, 10p13, 14q32, 15q24, and 18q21. Although the causal variants remain to be discovered, three of these loci contain CSF1, TNFRSF11A, and TM7SF4, genes that are known to play a critical role in osteoclast differentiation and function. Environmental factors are also important in the pathogenesis of PDB, as reflected by the fact that in many countries the disease has become less common and less severe over recent years. The most widely studied environmental trigger is paramyxovirus infection, but attempts to detect viral transcripts in tissues from patients with PDB have yielded mixed results. Although our understanding of the pathophysiology of PDB has advanced tremendously over the past 10 years, many questions remain unanswered, such as the mechanisms responsible for the focal nature of the disease and the recent changes in prevalence and severity.

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Section: Tnfrsf11amentioning

confidence: 99%

Pathogenesis of Paget Disease of Bone

2012

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“…A fibro-osseous pattern is encountered with evidence of extensive remodeling and deposition of woven bone. Areas of radiolucency are histologically comprised Expansile skeletal hyperphosphatasia (ESH) shows overlapping features with FEO, also being inherited as an autosomal dominant trait [44,45,92,93]. Accelerated bone turnover is seen along with hyperostotic expansion of the long bones with significant pain involving the phalanges, premature tooth exfoliation and deafness.…”

Section: Osteitis Deformans (Paget Disease)mentioning

confidence: 99%

Benign Fibro-Osseous Lesions of the Craniofacial Complex A Review

Eversole

El‐Mofty

2008

Head and Neck Pathol

274

357

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Benign fibro-osseous lesions of the craniofacial complex are represented by a variety of disease processes that are characterized by pathologic ossifications and calcifications in association with a hypercellular fibroblastic marrow element. The current classification includes neoplasms, developmental dysplastic lesions and inflammatory/reactive processes. The definitive diagnosis can rarely be rendered on the basis of histopathologic features alone; rather, procurement of a final diagnosis is usually dependent upon assessment of microscopic, clinical and imaging features together. Fibrous dysplasia and osteitis deformans constitute two dysplastic lesions in which mutations have been uncovered. Other dysplastic bone diseases of the craniofacial complex include florid osseous dysplasia, focal cemento-osseous dysplasia and periapical cemental dysplasia, all showing a predilection for African descent individuals; although no specific genetic alterations in DNA coding have yet to be uncovered and most studies have been derived from predominant high African descent populations. Ossifying fibromas are neoplastic lesions with four subtypes varying with regard to behavior and propensity for recurrence after surgical excision. The clinicopathologic and molecular features of this unique yet heterogeneous group of diseases are reviewed.

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“…Mutations have been identified in four genes that cause PDBrelated syndromes (FEO, ESH, EOPDB and JPD) [5][6][7][8][9], but genetic factors play an important role also in the classic form of PDB. These genes are represented respectively by: TNFRSF11A, which encodes the Receptor Activator of Nuclear factor jB (RANK) for FEO, ESH and EOPDB; TNFRSF11B, which encodes osteoprotegerin (OPG) for JPD; valosin containing protein gene (VCP) which encodes p97 protein for…”

Section: Genes Involved In Classic Pdb and Pdb-related Syndromes Pathmentioning

confidence: 99%

Genetic aspects of the Paget’s disease of bone: concerns on the introduction of DNA‐based tests in the clinical practice. Advantages and disadvantages of its application

Falchetti

Marini

Masi

et al. 2010

Eur J Clin Investigation

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Background A large amount of genetic studies have clearly demonstrated the existence of a genetic susceptibility to Paget's disease of bone (PDB). Although the disease is genetically heterogeneous, the SQSTM1 ⁄ p62 gene, encoding a protein with a pathophysiological role in both osteoclast differentiation and activity, has been found worldwide to harbour germline mutations in most of the PDB patients from geographically distant populations originating from different areas of Europe, both in sporadic and familial cases.

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Expansile Skeletal Hyperphosphatasia: A New Familial Metabolic Bone Disease

Cited by 64 publications

References 29 publications

Pathogenesis of Paget Disease of Bone

Pathogenesis of Paget Disease of Bone

Benign Fibro-Osseous Lesions of the Craniofacial Complex A Review

Genetic aspects of the Paget’s disease of bone: concerns on the introduction of DNA‐based tests in the clinical practice. Advantages and disadvantages of its application

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