Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) Syndrome, Type 2: Clinical Case
Bibliographic record
Abstract
Background. Ichthyosis follicularis with atrichia and photophobia (IFAP syndrome), type 2 is a rare hereditary disease from the group of syndromic forms of ichthyosis. It is clinically characterized by triad of non-inflammatory follicular ichthyosis, total or subtotal alopecia at birth or shortly after, and photophobia of different severity. There is no etiotropic therapy for IFAP syndrome, while symptomatic treatment (emollients, keratolytics, retinoids) is aimed on stabilizing the patient’s condition and maintaining the optimal quality of life. About 60 cases of IFAP syndrome have been described worldwide by 2023, and none in Russia. Clinical case description . The girl, 2 years 3 months old, had signs of xeroderma, follicular hyperkeratosis, photophobia with lacrimation, and alopecia. The diagnosis of “ichthyosis follicularis with atrichia and photophobia (IFAP syndrome), type 2, autosomal dominant” was established according to anamnesis, clinical signs, and results of whole-exome sequencing, followed by validation of the identified nucleotide variant chr17:17720597G>A, p.1669C>T (p.Arg557Cys NM_001005291.2) in exon 9 of the SREBF1 gene via direct automatic sequencing in the patient and both parents (not revealed in her parents). Conclusion . Molecular genetic testing is crucial to establish IFAP syndrome as clinical signs of the disease are similar to other dermatoses. However, physicians need to have clinical suspicion when identifying cases of follicular ichthyosis in combination with alopecia and photophobia at or shortly after birth to timely diagnose IFAP syndrome and thus prevent any treatment delays.
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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) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.002 |
| Insufficient payload (model declined to judge) | 0.003 | 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".