Late diagnosis of hyperphosphatemic familial tumoral calcinosis in an adult male: lessons from a misclassified case
Bibliographic record
Abstract
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder caused by multiple genetic mutations; all leading to reduced FGF23 function. It is characterised by hyperphosphatemia, ectopic calcifications, and signs of systemic inflammation. We describe a case of a 33-year-old male patient, previously diagnosed to have tumoral calcinosis due to multiple calciferous masses, who presented with polyarthritis involving the joints of the hands. He was managed by multiple surgical resections, after which the masses and symptoms recurred. He lost follow-up for 16 years before presenting to our clinic. The identification of elevated serum phosphate levels and a sibling with similar symptoms guided the diagnosis of HFTC. The patient was started on a low phosphate diet, sevelamer, and acetazolamide, and was instructed to avoid calcium and vitamin D supplements. Intravenous Zoledronic Acid was also given. The patient reported improvement in his symptoms in the follow-up visits.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.006 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".