Autosomal recessive congenital ichthyosis due to <i><scp>PNPLA</scp>1</i> mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy
Bibliographic record
Abstract
BACKGROUND: Ichthyoses represent a genetically and phenotypically heterogeneous syndrome of abnormal epidermal cornification. Although the clinical presentation, histopathological findings and genetic cause of autosomal recessive congenital ichthyosis (ARCI) in golden retriever dogs have been well investigated, the optimal management of this disease remains uncharacterized. OBJECTIVES: In this report we describe the beneficial effect of oral and topical fatty acids for management of a golden retriever and poodle cross-bred dog (goldendoodle) with ARCI due to a PNPLA1 (Patatin-like phospholipase domain containing 1) mutation. CASE REPORT: A six-month-old, intact female, second generation golden retriever and poodle cross-bred dog presented with a history of generalized scaling since the age of 6 weeks. Histopathology showed diffuse, laminated-to-compact hyperkeratosis with a single small perinuclear vacuole in occasional stratum granulosum keratinocytes. Genetic testing revealed a homozygotic insertion/deletion mutation in the gene PNPLA1. Daily oral fatty acid supplementation and humectant rinse, following weekly moisturizing shampoo, resulted in only mild improvement after two months. Weekly application of a topical essential oils and fatty acid product was then added. Thirteen months after the initial presentation the dog exhibited a marked improvement in clinical signs. The temporal discontinuation of topical therapy resulted in the worsening of scaling, which improved again after resuming this combination. CONCLUSIONS AND CLINICAL IMPORTANCE: To the best of the authors' knowledge, this is the first case report of ARCI with homozygous PNPLA1 mutation in a golden retriever-poodle cross-bred dog. The long-term combination of oral fatty acids and topical therapy appeared to be beneficial in this case.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| 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 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 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".