Atypical presentation of TRPV3 variant: Cerebral palsy and intellectual disability without dermatologic features of olmsted syndrome
Bibliographic record
Abstract
To the Editor: Olmsted syndrome (OS) is a rare genodermatosis, with limited cases reported globally, primarily characterized by progressive palmoplantar keratoderma and keratotic plaques, and is linked to mutations in the TRPV3 gene on chromosome 17p13.2.1,2 We read with great interest the case report by Frantz et al, which describes a mild presentation of OS due to a loss-of-function mutation in the TRPV3 gene (transient receptor potential vanilloid-3).3 Their patient exhibited dermatologic features, including nonpruritic hyperkeratotic palms and soles with scarring alopecia. Here, we report a 17-year-old male of Asian descent, with cerebral palsy and intellectual disability, but without any dermatologic features typically associated with OS, despite carrying a TRPV3 variant (Fig 1). He was referred for psychiatric evaluation due to academic decline, impulsivity, and emotional dysregulation. A physical exam demonstrated no evidence of palmoplantar keratoderma, periorificial plaques, or any other skin lesions. Cognitive testing revealed an FSIQ of 69 (95% confidence interval, 65-76), indicating intellectual disability. Genome-wide oligonucleotide array-based comparative genomic hybridization analysis, performed using the Human Genome CGH Microarray kit, identified an intragenic deletion of approximately 13 kilobases (kb) in the TRPV3 gene at cytogenetic band 17p13.2. The deleted genomic segment included exons 3-8 of the TRPV3 gene (arr[GRCh38] 17p13.2(3532389_3545489)×1). Since parental genetic data were unavailable, it remains unclear whether this variant was inherited or de novo.
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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 | 0.005 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.003 | 0.001 |
| Research integrity | 0.007 | 0.005 |
| Insufficient payload (model declined to judge) | 0.003 | 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".