Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study
Bibliographic record
Abstract
INTRODUCTION: Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by trichological, craniofacial, and skeletal abnormalities. To date, limited data are available on hair involvement in TRPS, especially those focusing on trichoscopy. OBJECTIVE: We aimed to describe the epidemiology and the clinical and trichoscopy features of TRPS. METHODS: We performed a retrospective multicenter study using chart review and images from six patients with a confirmed diagnosis of TRPS. Hair density (hair/field; field 13×1.4 mm) was classified as high (>30), medium (21-30), low (11-20), very low (5-10), or hairless (<4). The distance between follicular units, ranging from 1.0 mm to 1.4 mm, was considered normal. RESULTS: Most patients were females, with a median age of 12 at diagnosis. Hair density ranged from very low to medium. All female patients presented a high occipital hairline. Our patients had exclusively non-terminal hairs and no case with high hair density, following the literature, which describes thin and sparse hairs. Hair density was related to a higher proportion of single hair units, while the distance between follicles was within normal limits. CONCLUSION: TRPS is notably uncommon, with hair alterations being important for diagnosis, where trichoscopy serves as a valuable tool. Our study found a normal hair diameter relationship (frontal ≥ occipital) in females, while the male patient exhibited frontal-occipital inversion. Low hair density may result from an increased number of single hair units rather than from follicular distance. The high occipital hairline is proposed as a diagnostic pearl, warranting further studies to validate our findings.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 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".