Urbach-Wiethe syndrome: report of two clinical cases
Bibliographic record
Abstract
Urbach-Wiethe syndrome, also known as lipoid proteinosis (LP), is a rare genodermatosis clinically characterized by mucocutaneous lesions, dysphonia with onset in early childhood, and, sometimes, neurological complications. Clinical signs, as well as the severity of the disease, are highly variable, while its course is usually slowly progressive. The typical primary sign is hoarse crying due to laryngeal infiltration at birth or during early childhood. Alterations of the skin and mucous membranes develop within the first two years of life. The skin lesions initially appear on the face and limbs and usually resolve by healing. Infiltration of the respiratory system can cause upper respiratory tract infections, hoarseness or aphonia, dysphagia, and even airway obstruction. Dystonia, epileptic seizures, and learning disorders may be observed in affected children. Treatment remains a major challenge as no standardized therapies exist, but oral acitretin appears to be effective in improving skin manifestations. We report two clinical cases of young women suffering from LP, presenting with dermatological, otorhinolaryngological, and neurological symptoms, currently referred to our Rare Cutaneous Syndrome Center at the Policlinico Umberto I in Rome (Italy).
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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 | 0.000 | 0.003 |
| Meta-epidemiology (narrow) | 0.003 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.004 | 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".