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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...

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Autores principales: Boro, Hiya, Singh Naik, Shailendra, Singh, Charandeep, Khatiwada, Saurav, Khadgawat, Rajesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
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.
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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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