Abnormal ectodermal findings associated with gastrointestinal polyposis
Bibliographic record
Abstract
A 55-year-old man presented to our department complaining of profuse diarrhea and poor appetite for 1 month. He also reported weight loss of about 6 kg over 2 months. His medical history revealed diabetes mellitus, although well controlled. On physical examination, his fingernails and toenails were dry and dystrophic (Fig. 1A and and1B).1B). We also noticed hyperpigmentation in both palms (Fig. 1C) and hair loss around the crown, with positive hair pull test (Fig. 1D). The laboratory studies were unremarkable, except for hypoalbuminemia (3.1 g/dL). Abdominal computed tomography showed innumerable polyps, along with reactive lymph node enlargement in the stomach, small bowel, and colon. Upper endoscopy revealed thickened mucosal folds and multiple sessile polyps of various sizes throughout the stomach and duodenum (Fig. 2A), while colonoscopy showed multiple strawberry-like polyps with nodular mucosa in the entire colon (Fig. 2B). Microscopic examinations of biopsies from these polyps revealed cystic glandular dilatation and epithelial hyperplasia; lamina propria was edematous, containing mononuclear cell infiltrates (Fig. 2C). These findings were consistent with those of hamartomatous polyps. His family history was not significant for gastrointestinal polyposis complications. Cronkhite-Canada syndrome (CCS) was diagnosed based on clinical manifestations, imaging features, endoscopic, and pathologic findings. Figure 1. Various ectodermal findings. (A) Onychodystrophy of fingers. (B) Onychodystrophy of toes as well as hyperpigmentation of the first toe’s nail plate. (C) Hyperpigmentation of both palmar surfaces. (D) Hair loss, including crown area thinning and ... Figure 2. Endoscopic and pathologic findings. (A) Diffuse gastric mucosa thickening and polyposis. (B) Colonic mucosa carpeted with multiple strawberry-like polyps of various sizes and shapes. (C) Colonic polyp with cystically dilated glands and thickened lamina ... CCS is a very rare pathological entity. Unlike other hamartomatous polyposis syndromes, it is characterized by adult onset, non-inherited gastrointestinal polyposis, and diagnostic ectodermal findings, including alopecia, onychotrophy, and pigmentation. When encountered with a patient with innumerable polyps in the gastrointestinal tract, a clinician should have a high index of suspicion for CCS, and look for characteristic clinical, endoscopic, and histopathological findings of CCS and take special note of the different gastrointestinal polyposis conditions that may be present.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 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".