Linear and whorled nevoid hypermelanosis and Joubert syndrome: a novel association: A case report and literature review
Bibliographic record
Abstract
This report discusses a case of linear and whorled nevoid hypermelanosis associated with cerebellar atrophy, ocular and developmental anomalies compatible with Joubert syndrome. Linear and whorled nevoid hypermelanosis is a rare disorder of skin pigmentation characterized by swirls and whorls of hyperpigmented macules in a reticulate pattern along Blaschko's lines. Neurologic, cardiac, skeletal and developmental anomalies have been reported. We present a case of linear and whorled nevoid hypermelanosis on an 18-year-old woman who also presented with cerebellar atrophy, jerk nystagmus, macrocephaly and developmental delay. Those symptoms were compatible with Joubert syndrome. A complete work-up failed to reveal other systemic or skeletal anomalies. No chromosomal alteration was found on karyotyping carried out on a skin specimen. Much remains to be known about linear and whorled nevoid hypermelanosis. It is generally a benign condition but association with various congenital anomalies have been reported. Proper work-up is advised in order to exclude congenital anomalies.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 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) | 0.000 | 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 teacher head, 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".