Understanding Brooke-Spiegler syndrome and its dermatologic manifestations: A scoping review
Bibliographic record
Abstract
Introduction Brooke-Spiegler syndrome (BSS), or turban tumor syndrome, is a rare condition characterized by multiple cutaneous adnexal neoplasms, usually spiradenoma, cylindroma, spiradenoma cylindroma, and trichoepithelioma. Objective This comprehensive scoping review overviews the rare syndrome BSS's epidemiology, etiology, clinical features, pathogenesis, and treatment. Methods Two independent reviewers screened PubMed, Embase, and Scopus databases to identify all documented articles and studies about BSS with the search terms “Brooke-Spiegler syndrome,” “turban tumor syndrome,” “epidemiology,” “etiology,” “clinical features,” “pathogenesis,” and “treatment.” Results 457 articles were included for analysis after screening and review of full texts. Brooke-Spiegler Syndrome is inherited in an autosomal dominant pattern due to a mutation in the CYLD tumor suppressor gene located on chromosome 16q12.1, which plays a vital role in tumor suppression through the NF-κB signaling pathway. This mutation predisposes individuals, particularly females in their 2nd to 3rd decades of life, to develop 10-30 or several hundred cutaneous adnexal neoplasms on the head and neck. The clinical manifestations of BSS vary, but spiradenomas, cylindromas, and trichoepitheliomas are expected, with a small percentage of cases showing potential for malignant transformation. BSS has two phenotypic variants, Multiple Familial Trichoepitheliomas, and Familial Cylindromatosis, and the term CYLD Cutaneous Syndrome encompasses all three syndromes. Neoplasms of the breast and salivary gland have also been reported. Treatment for associated neoplasms typically involves surgical excision, although other modalities such as laser, photodynamic therapy, dermabrasion, and cryosurgery are also being used. Conclusion These findings have significant implications for diagnosing, treating, and a more comprehensive understanding of BSS.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.005 | 0.001 |
| 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 | 0.001 | 0.001 |
| 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".