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X-Linked Hypophosphatemic Rickets Manifesting as Sclerotic Bone Disease and Enthesopathy
X-linked hypophosphatemic (XLH) rickets is a genetic disease caused due to the inactivation of the PHEX gene (phosphate regulating gene with homology to endopeptidase on the X chromosome). The usual presentation is with rickets and osteomalacia, and dental abscesses leading to premature loss of teet...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7652373/ https://www.ncbi.nlm.nih.gov/pubmed/33178527 http://dx.doi.org/10.7759/cureus.10874 |
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author | Boro, Hiya Singh Naik, Shailendra Singh, Charandeep Khatiwada, Saurav Khadgawat, Rajesh |
author_facet | Boro, Hiya Singh Naik, Shailendra Singh, Charandeep Khatiwada, Saurav Khadgawat, Rajesh |
author_sort | Boro, Hiya |
collection | PubMed |
description | X-linked hypophosphatemic (XLH) rickets is a genetic disease caused due to the inactivation of the PHEX gene (phosphate regulating gene with homology to endopeptidase on the X chromosome). The usual presentation is with rickets and osteomalacia, and dental abscesses leading to premature loss of teeth. However, enthesopathy and sclerotic bone disease in XLH have also been reported in a few case reports. In this report, we describe the case of a 23-year-old female patient who presented to us with severe bone deformities, proximal myopathy, truncal weakness, and recent onset of pain and stiffness around the joints. She was diagnosed with XLH and was found to have severe enthesopathy along with heterotopic ossification. |
format | Online Article Text |
id | pubmed-7652373 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-76523732020-11-10 X-Linked Hypophosphatemic Rickets Manifesting as Sclerotic Bone Disease and Enthesopathy Boro, Hiya Singh Naik, Shailendra Singh, Charandeep Khatiwada, Saurav Khadgawat, Rajesh Cureus Endocrinology/Diabetes/Metabolism X-linked hypophosphatemic (XLH) rickets is a genetic disease caused due to the inactivation of the PHEX gene (phosphate regulating gene with homology to endopeptidase on the X chromosome). The usual presentation is with rickets and osteomalacia, and dental abscesses leading to premature loss of teeth. However, enthesopathy and sclerotic bone disease in XLH have also been reported in a few case reports. In this report, we describe the case of a 23-year-old female patient who presented to us with severe bone deformities, proximal myopathy, truncal weakness, and recent onset of pain and stiffness around the joints. She was diagnosed with XLH and was found to have severe enthesopathy along with heterotopic ossification. Cureus 2020-10-10 /pmc/articles/PMC7652373/ /pubmed/33178527 http://dx.doi.org/10.7759/cureus.10874 Text en Copyright © 2020, Boro et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Endocrinology/Diabetes/Metabolism Boro, Hiya Singh Naik, Shailendra Singh, Charandeep Khatiwada, Saurav Khadgawat, Rajesh X-Linked Hypophosphatemic Rickets Manifesting as Sclerotic Bone Disease and Enthesopathy |
title | X-Linked Hypophosphatemic Rickets Manifesting as Sclerotic Bone Disease and Enthesopathy |
title_full | X-Linked Hypophosphatemic Rickets Manifesting as Sclerotic Bone Disease and Enthesopathy |
title_fullStr | X-Linked Hypophosphatemic Rickets Manifesting as Sclerotic Bone Disease and Enthesopathy |
title_full_unstemmed | X-Linked Hypophosphatemic Rickets Manifesting as Sclerotic Bone Disease and Enthesopathy |
title_short | X-Linked Hypophosphatemic Rickets Manifesting as Sclerotic Bone Disease and Enthesopathy |
title_sort | x-linked hypophosphatemic rickets manifesting as sclerotic bone disease and enthesopathy |
topic | Endocrinology/Diabetes/Metabolism |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7652373/ https://www.ncbi.nlm.nih.gov/pubmed/33178527 http://dx.doi.org/10.7759/cureus.10874 |
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