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Hyperphosphatasia with massive osteoectasia: a 45-year follow-up

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Abstract

Hyperphosphatasia is a heterogeneous group of disorders characterized by a generalized skeletal disease and increased alkaline phosphatase. Increased bone remodeling secondary to increased osteoclastic activity appears to be the underlying feature of these disorders. These disorders include juvenile Paget’s disease, expansile skeletal hyperphosphatasia, hyperostosis generalisata with striations, and Camurati-Engelmann’s disease, type II. The genetic mutations for a number of these disorders have been identified. We present a patient with congenital hyperphosphatasia whose clinical and radiographic features were somewhat different from these other well-defined syndromes. The patient was followed for 45 years until his death of at age 49. The patient had massive osteoectasia with dense striations involving the entire shaft of his long bones. His spine, pelvis, short tubular bones, and calvarium were also involved. He suffered hearing loss and optic atrophy, but he kept his teeth throughout his life. He was tall with a marfanoid habitus, and he had hypogonadism and hypothyroidism. There was no evidence of mental retardation, and other laboratory studies where within normal limits. This case, as well as other manifestations of hyperphosphatasia, attests to the complexity of the bone remodeling system.

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References

  1. Bakwin H, Eiger M. Fragile bones and macrocranium. J Pediatr 1956; 49(5):558–64.

    Article  CAS  Google Scholar 

  2. Whyte M. Heritable metabolic and dysplastic bone diseases. Endocrinol Metab Clin North Am 1990; 19(1):133–73.

    Article  CAS  Google Scholar 

  3. van Hul W. Recent progress in the molecular genetics of sclerosing bone dysplasias. Pediatr Pathol Mol Med 2003; 22:11–22.

    Article  Google Scholar 

  4. Ghadami M, Makita Y, Yoshida K, Nishimura G, Fukushima Y, Wakui K et al. Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1–q13.3. Am J Hum Genet 2000; 66:143–7.

    Article  CAS  Google Scholar 

  5. Cundy T. Idiopathic hyperphosphatasia. Semin Musculoskelet Radiol 2002; 6(4):307–12.

    Article  Google Scholar 

  6. Middleton-Hardie C, Zhu Q, Cundy H, Lin J, Callon K, Cheung Tong P et al. Deletion of Aspartate 182 in OPG causes juvenile Paget’s disease by impairing both protein secretion and binding to RANKL. J Bone Miner Res 2006; 21(3):438–45.

    Article  CAS  Google Scholar 

  7. Cundy T, Hegde M, Naot D, Chong B, King A, Wallace R et al. A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Hum Mol Gen 2002; 11(18):2119–27.

    Article  CAS  Google Scholar 

  8. Whyte M, Obrecht S, Finnegan P, Jones J, Podgornik M, McAlister W et al. Osteoprotegerin deficiency and juvenile Paget’s disease. N Eng J Med 2002; 347(3):175–84.

    Article  CAS  Google Scholar 

  9. Whyte M, Mills B, Reinus W, Podgornik M, Roodman G, Gannon F et al. Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease. J Bone Miner Res 2000; 15(12):2330–44.

    Article  CAS  Google Scholar 

  10. Whyte M, Hughes A. Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis. J Bone Miner Res 2002; 17(1):26–9.

    Article  CAS  Google Scholar 

  11. Hughes A, Ralston S, Marken J, Bell C, MacPherson H, Wallace R et al. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet 2000; 24:45–8.

    Article  CAS  Google Scholar 

  12. Osterberg P, Wallace R, Adams D, Crone R, Dickson G, Kanis J et al. Familial expansile osteolytis: a new dysplasia. J Bone Joint Surg Br 1988; 70(2):255–60.

    Article  CAS  Google Scholar 

  13. Marik I, Marikova A, Hyankova E, Kozlowski K. Familial expansile osteolysis-not exclusively an adult disorder. Skeletal Radiol 2006; published online.

  14. Fujimoto H, Nishimura G, Tsumarai Y, Nosaka K, Kanisawa S, Ohba S et al. Hyperostosis generalisata with striations of the bones: report of a female case and a review of the literature. Skeletal Radiol 1999; 28:460–4.

    Article  CAS  Google Scholar 

  15. Nishimura G, Nishimura H, Tanaka Y, Makita Y, Ikegawa S, Ghadami M et al. Camurati-Engelmann disease type II: progressive dyaphyseal dysplasia with striations of the bones. Am J Med Genet 2002; 107:5–11.

    Article  Google Scholar 

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Authors and Affiliations

  1. Department of Pathology and Orthopaedic Surgery, Division of Surgical Pathology, The Harry & Jeanette Weinberg Building, 401 N. Broadway / Room 2242, Baltimore, MD, 21231-2410, USA

    E. F. McCarthy

  2. Department of Internal Medicine, 600 N., Wolfe Street, Baltimore, MD, 21231, USA

    G. H. Sack

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  1. E. F. McCarthy
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  2. G. H. Sack
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Correspondence to E. F. McCarthy.

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McCarthy, E.F., Sack, G.H. Hyperphosphatasia with massive osteoectasia: a 45-year follow-up. Skeletal Radiol 36 (Suppl 1), 2–6 (2007). https://doi.org/10.1007/s00256-006-0176-3

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  • DOI: https://doi.org/10.1007/s00256-006-0176-3

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