Clinical and Genetic Characterization of 8 Patients with Syndromic Patterned Cutaneous Hypopigmentation: A Descriptive Study
Bibliographic record
Abstract
Background: Patterned cutaneous hypopigmentation (PCH) can be associated with an array of extracutaneous findings. Objective: Determine clinical and genetic characteristics of patients with PCH with extracutaneous involvement. Method: Thirty patients were identified, and eight patients with neurological involvement agreed to participate in this study. They were reassessed to collect clinical anomalies associated with their PCH. Exome sequencing was performed on patient blood and lesional skin biopsies as well as blood from both parents when available. Array comparative genomic hybridization was performed on patients’ skin and blood samples. Results: Narrow and broad bands along the lines of Blaschko were observed in 8 and 5 patients, respectively. Musculoskeletal, acral; ophthalmologic; and dental anomalies were observed in 7 patients. A chromosomal or monogenic cause of syndromic PCH was identified in all patients: 3 mosaic chromosomal abnormalities found (trisomy 7, trisomy 14, and 13q13-ter deletion) and pathological de novo germline and somatic mutations in 3 ( NBEA , USP9X , and DDX3X ) and 2 patients ( NIPBL and RHOA ) respectively. Limitations: Single-centre and retrospective study. Conclusion: Through better clinical characterization of syndromic PCH, we will improve our understanding of these disorders. We believe that all patients with PCH with systemic findings should undergo comprehensive genomic evaluations of lesional skin and peripheral blood.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 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".