ArticleBone reports2021
Pseudohypoparathyroidism mimicking cervical diffuse idiopathic skeletal hyperostosis with dysphagia: A case report and literature review.
Article in Bone reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- Patients with diffuse idiopathic skeletal hyperostosis have an increased burden of thoracic aortic calcifications.Rheumatology advances in practice · 2022Article
- Prevalence and characteristics of thoracic diffuse idiopathic skeletal hyperostosis in 3299 black patients.Scientific reports · 2021Article
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Authors and funding
5 authors at 1 institution in 1 country.
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Abstract
Dysphagia due to extensive ossification at anterior segments of the cervical spine is a rare occurrence and is usually attributable to diffuse idiopathic skeletal hyperostosis (DISH). We present the case of a 74-year-old female with dysphagia most likely due to ossification in pseudohypoparathyroidism type 1a (PHP1a). PHP1a is a rare, autosomal dominant disorder caused by mutations in the GNAS1 gene. Our patient had characteristic phenotype features of PHP1a, also known as Albright's hereditary osteodystrophy (AHO), which was diagnosed without genetic confirmation. She was conservatively treated with dietary measures and observation, and reported persisting symptoms of dysphagia at six-month follow-up. This is the first case to describe dysphagia in PHP1a with a similar presentation to DISH.
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