Is SAPHO Syndrome Linked to PASH Syndrome and Hidradenitis Suppurativa by Nicastrin Mutation? A Case Report
Bibliographic record
Abstract
To the Editor: The SAPHO syndrome is a group of disorders that manifest as synovitis, acne, pustulosis, hyperostosis, and osteitis. Of these, acne damage can present as acne conglobata, acne fulminans, or hidradenitis suppurativa (HS). Studies have shown that some patients with HS or pyoderma gangrenosum, acne, and HS (PASH) syndrome have mutations in gamma-secretase, with alterations in its nicastrin (NCSTN) subunit being especially common1,2. Currently, the pathogenic genes of SAPHO syndrome are not yet known. Here, we describe the detection of a mutation in the NCSTN subunit of gamma-secretase in a sporadic patient with SAPHO syndrome presenting with HS. A 44-year-old Chinese Han male patient with a history of pain in the elbows, knees, sternoclavicular joint, and sacroiliac joint for > 10 years presented with acne and HS in the face and trunk within the last 4 years. Oral isotretinoin treatment was ineffective. The physical examination revealed inflammatory papules and depressed scars on the face. Inflammatory papules, nodules, and cysts accompanied by scarring were found on the back of the neck, back, axilla, and buttocks (Figure 1). Results of the tenderness tests of both sternoclavicular joints, left elbow, and left … Address correspondence to Dr. W. Baoxi, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Road Badachu 33, Shijingshan District, Beijing 100144, China. E-mail: wangbx{at}vip.126.com
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.005 |
| Meta-epidemiology (narrow) | 0.003 | 0.002 |
| Meta-epidemiology (broad) | 0.004 | 0.002 |
| Bibliometrics | 0.003 | 0.003 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.002 | 0.004 |
| Open science | 0.003 | 0.002 |
| Research integrity | 0.011 | 0.005 |
| Insufficient payload (model declined to judge) | 0.005 | 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".