Clinical Characteristics of Patients With Darier Disease in Southwestern Ontario
Bibliographic record
Abstract
Darier disease (DD) is a rare autosomal dominant genodermatosis characterized by keratotic papules and plaques, and associated nail and oral mucosal changes. A retrospective chart review of patients diagnosed with DD and treated at the dermatology clinics at McMaster University between 2015 and 2025. The objective of the study is to describe the clinical features and comorbidities of patients with DD in Southwestern Ontario, Canada. The cohort included 24 patients (mean age = 29.5). Approximately, 79% of the cohort reported a family history of DD. Most patients exhibited keratotic lesions, primarily on the head and neck, and 67% had nail abnormalities. Oral mucosal changes were seen in 21% of patients. Notably, 71% had neuropsychiatric comorbidities, such as anxiety, depression, and epilepsy, and 12.5% had cardiovascular disease. DD patients often present with a variety of different symptoms, many of which can affect their quality of life. This study highlights the need for further research on the multifaceted presentation of DD and its associated comorbidities.
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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.002 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
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".