A Systematic Review of Clinical Features and Treatment Outcomes of Xanthoma Disseminatum
Bibliographic record
Abstract
Xanthoma disseminatum (XD) is a rare normolipidemic mucocutaneous xanthomatosis within the spectrum of cutaneous non-Langerhans histiocytosis. Managing XD poses substantial challenges, with limited available data. This study aims to comprehensively evaluate existing literature on clinical features of XD and treatment outcomes. A systematic search of MEDLINE, Embase, and PubMed was performed, using "xanthoma disseminatum" and "Montgomery syndrome" as search terms, without restrictions. Screening was performed in duplicate by 2 reviewers. One hundred fifty-one studies met the inclusion criteria, yielding 166 cases of XD (106 females, 60 males), mean age at diagnosis 35.3 years (range: 9 months-87 years). XD typically presented as yellow-to-brown coalescing papules/plaques and nodules. Distribution affects mainly the face (n = 116/166), flexures (n = 45/166), trunk (n = 65/166), and genitalia/inguinal areas (n = 63/166). Most cases (99.4%; n = 165/166) exhibited extracutaneous manifestations, including the pituitary gland and the oropharynx. Treatment options rendered low complete response rates (CRRs). Treatments with reported outcomes included surgical resection (n = 17/99), systemic steroids (n = 40/99), immunosuppressants/immunomodulators (n = 73/99), energy-based devices (n = 7/99), lipid-lowering agents (n = 24/99), cryotherapy (n = 6/99), lasers (n = 10/99), topical steroids (n = 6/99), oral retinoids (n = 2/99), and radiotherapy (n = 5/99), with CCRs of 23.5% (n = 4/17), 5.0% (n = 2/40), 9.6% (n = 7/73), 14.3% (n = 1/7), 4.2% (n = 1/24), 16.7% (n = 1/6), 10.0% (n = 1/10), 0% (n = 0/6), 0% (n = 0/2), and 0% (n = 0/5), respectively. The most promising therapy is cladribine, with the highest CRR of 27.1% (n = 6/22) and the lowest no response rate (9.1%; n = 2/22) of all reported treatments. This review confirms the high prevalence of systemic manifestations in XD. Treatment options vary widely; thus, further research is needed to establish management strategies for this challenging condition.
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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 | 0.006 | 0.027 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.007 | 0.005 |
| Bibliometrics | 0.013 | 0.016 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 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".