Idiopathic hyperphosphatasia with dermal pigmentation. A twenty-year follow-up.

@article{Dhler1986IdiopathicHW,
  title={Idiopathic hyperphosphatasia with dermal pigmentation. A twenty-year follow-up.},
  author={J. R. D{\"o}hler and William Alexander Souter and Ian Beggs and G. D. Smith},
  journal={The Journal of bone and joint surgery. British volume},
  year={1986},
  volume={68 2},
  pages={
          305-10
        }
}
Hyperphosphatasia, or hereditary bone dysplasia with hyperphosphatasaemia, is a rare genetic disorder which is characterised by failure to transform woven into lamellar bone. Clinical, radiological and histological features establish the diagnosis, fractures, deformities, diffuse sclerosis on radiographs and high serum alkaline phosphatase being characteristic. We report the case of a 27-year-old man with follow-up at the same hospital for 20 years. Attempts at treatment with calcitonin and… 
Chronic idiopathic hyperphosphatasemia. Case report.
Post-partum hypercalcemia in hereditary hyperphosphatasia (juvenile Paget’s disease)
TLDR
A patient with a mild form of hereditary hyperphosphatasia who was initially hypercalcemic in childhood with remission after puberty is described, and it is postulate that acute estrogen withdrawal may result in hypercalcemia in the presence of markedly increased bone turnover.
Otological findings in idiopathic hyperphosphatasia.
TLDR
A 17-year-old male patient with severe mixed-type hearing loss was admitted because of progressive hearing loss since the age of six and his former blood and radiology investigation had revealed idiopathic hyperphosphatasia.
Bone scan findings in idiopathic hyperphosphatasia.
TLDR
Hyperphosphatasia is a rare genetic disorder characterized by failure to transform woven bone into lamellar bone with a suspicion of a right humeral bone cyst with respect to the radiographic examinati.
Fibrous dysplasia of bone and the Weil-Albright syndrome
SummaryFour patients with monostotic and nine with polyostotic fibrous dysplasia of bone, including one with the classical Weil-Albright syndrome and a male child who may have had this syndrome, are
Effect of Alendronate Treatment on the Clinical Picture and Bone Turnover Markers in Chronic Idiopathic Hyperphosphatasia
TLDR
Ten weeks of treatment with alendronate resulted in marked clinical improvement and normalization of serum alkaline phosphatase activity, indicating decreased bone turnover rate in a 17 year-old boy with CIH.
Involvement of the skull base and vault in chronic idiopathic hyperphosphatasia
TLDR
Cranial MR in this patient enabled us to confirm that CIH involves the skull base and vault, and showed no detectable cranial nerve involvement or hydrocephalus.
Hyperphosphatasemia: CT assessment
TLDR
A 39-year-old male exhibiting striking skeletal deformities consisting of enlargement of the skull, enlargement and bowing of the long bones, neurosensorial symptoms and elevated alkaline phosphatase is the subject of this report.
Juvenile paget disease: Life‐long features of a mildly affected young woman
  • D. S. Golob, W. Mcalister, +5 authors M. Whyte
  • Medicine
    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
  • 1996
TLDR
It is revealed that lamellar bone without features of PBD can characterize the skeletal histopathology of the especially rare case of mild JPD.
Hyperphosphatasia-osteoactasia detected during anthropological examination.
  • G. Bujdosó
  • Sociology, Medicine
    Forensic science international
  • 1990
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The name, congenital hyperphosphatasia, is accepted for a condition characterized by fragile bones, premature loss of teeth, and dwarfism, with other defects occurring secondarily in two children studied.
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TLDR
Evaluation disclosed markedly raised serum alkaline phosphatases and a high urinary excretion of hydroxyproline, suggesting an accelerated bone turnover, while calcium metabolism was virtually undisturbed, during 12 months therapy with calcitonin.
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TLDR
Two children with bone dysplasia with hyperphosphatasemia (juvenile Paget's disease) were treated with synthetic human calcitonin and during treatment a discrete cortex was formed composed of compact bone, and more normal modeling occurred.
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