X-Linked Hypophosphatemic Rickets Manifesting as Sclerotic Bone Disease and Enthesopathy.
dental abscess
enthesopathy
hypophosphatemia
osteosclerosis
rickets
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
10 Oct 2020
10 Oct 2020
Historique:
entrez:
12
11
2020
pubmed:
13
11
2020
medline:
13
11
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33178527
doi: 10.7759/cureus.10874
pmc: PMC7652373
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e10874Informations de copyright
Copyright © 2020, Boro et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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