ArticleAACE clinical case reports
Skeletal Complications With GNAS Mutation: An Unusual Case With Osteoma Cutis, Gout, and Synovial Chondromatosis in a Patient With Pseudopseudohypoparathyroidism.
Article in AACE clinical case reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- A Case of Pseudohypoparathyroidism With Unusual Presentation and Novel Genetic Mutation.Cureus · 2026Article
- Trends in the Contribution of Genetic Susceptibility Loci to Hyperuricemia and Gout and Associated Novel Mechanisms.Frontiers in cell and developmental biology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWe present a patient with pseudopseudohypoparathyroidism (PPHP) who developed both gout and synovial chondromatosis, in addition to the classical Albright's hereditary osteodystrophy phenotype.
methodsThe patient's clinical course, laboratory data, and imaging are presented.
resultsThe patient is a 40-year-old male with no pertinent family history who presented with findings of Albright's hereditary osteodystrophy, including short stature, obesity, rounded face, shortened fourth and fifth digits, and osteoma cutis (heterotopic subcutaneous ossification), which required surgical removal for pain relief. Genetic testing confirmed a GNAS mutation, and labs showed normal parathyroid hormone, calcium, and phosphorus levels, diagnostic of PPHP. The patient later developed gout and synovial chondromatosis, a rare benign process where the synovial membrane forms calcified loose bodies within the joint.
conclusionThe patient case highlights the musculoskeletal complications of PPHP. Though PPHP has been rarely associated separately with gout or synovial chondromatosis, this is the first reported patient to have developed both conditions. This case raises the significance of multidisciplinary follow up for potential orthopedic complications. Moreover, the case underscores the importance of genetics and epigenetics in skeletal health, independent of calcium homeostasis in the blood.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.