Dry and atrophic skin with scaly hyperpigmented macules in a child with conjunctival injection and excessive corneal vascularization
Bibliographic record
Abstract
A 7-year-old Malay girl, the second offspring from a non-consanguineous marriage, presented with progression in the number and size of pigmented spots on her face, and body from one year of age. She also had sensitivity to light and reddened eyes. Her developmental milestones were normal. Her parents were healthy, and there was no family history of a similar disorder. Physical examination revealed conjunctival injection, decreased visual acuity, excessive corneal vascularization, and dry and atrophic skin with scaly hyperpigmented and hypopigmented macules over her body (Figures 1 to 3). The rest of the physical examination including the neurological examination was unremarkable. A presumptive diagnosis of xeroderma pigmentosum (XP) was made, based on typical clinical features (increased photosensitivity and characteristic cutaneous and ophthalmologic findings). A negative family history does not exclude the diagnosis as XP is inherited as a autosomal recessive trait. Germline genetic testing showed an homozygous pathologic variant 3-14190346-CCT-CNM_004628.5:c2216_2217del in the XPC gene, confirming the diagnosis of XP. The condition was first described in 1874 by Moritz Kohn Kaposi, a Hungarian dermatologist, who reported two children with thin, dry skin, skin contraction, checkered pigmentation, dilatation of cutaneous blood vessels, and development of multiple cutaneous tumors at a young age (1).
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.003 |
| Insufficient payload (model declined to judge) | 0.002 | 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".