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Record W4400126522 · doi:10.1093/bjd/ljae090.282

PA27 Expanding the phenotype of congenital erosive and vesicular dermatosis

2024· article· en· W4400126522 on OpenAlexaff
Lindy Moxham, Sarah Felton, Joseph S. Lam

Bibliographic record

VenueBritish Journal of Dermatology · 2024
Typearticle
Languageen
FieldHealth Professions
TopicNeonatal skin health care
Canadian institutionsBC Children's HospitalUniversity of British Columbia
Fundersnot available
KeywordsPhenotypeBiologyDermatologyMedicineGeneticsGene

Abstract

fetched live from OpenAlex

Abstract Congenital erosive and vesicular dermatosis (CEVD) is a rare condition that typically presents at birth with erosions and vesicles (Cohen B, Esterly N, Nelson P. Congenital erosive and vesicular dermatosis healing with reticulated and supple scarring. Arch Dermatol 1985; 121: 361–7). Lesions heal with distinctive reticulate and supple scarring and can involve > 75% of the skin surface (Tlougan BE, Paller AM, Schaffer JV et al. Congenital erosive and vesicular dermatosis with reticulated supple scarring: unifying clinical features. J Am Acad Dermatol 2013; 69: 909–15). The pathogenesis of CEVD is unknown, although hypotheses include intrauterine infection, amniotic adhesions, or a developmental defect in skin healing. Histopathological findings early in the disease process can include epidermal necrosis, subepidermal vesiculation and an eroded epidermis. Older lesions demonstrate scar formation, decreased hair follicles, and absent eccrine glands. Historically, CEVD has been described as preferentially affecting the trunk and limbs, with sparing of the face and volar surfaces. Patients with CEVD have been reported to have higher prevalence of premature birth, neurodevelopmental abnormalities, nail abnormalities, tongue atrophy or sores, alopecia, and cardiac defects. Here, we highlight two patients with presumed CEVD with atypical features. Patient A presented at 13 months with a history of linear erosions and vesiculation over their scalp, forehead and posterior left flank. The lesions were present at birth and healed with reticulate scarring with no further flares. Patient B presented at 11 months with a history of stellate scarring over the lower abdomen, with noncontiguous involvement of the right and left axillae, scalp, and right forehead. The lesions were also present at birth and were initially more erythematous and developed milia-like cysts. The cysts resolved, leaving reticulate and supple scarring. Of note, patient B had no erosions or vesicles. At the time of assessment, both children were otherwise healthy and developing normally. These cases add to evidence that CEVD is neither facial nor scalp sparing, as commonly described, and can be more localized than previously thought, but affect noncontiguous sites. Case B also demonstrates that, despite the name, CEVD can present without erosions, and instead with milia-like cysts. The cases also demonstrate that CEVD can occur in the absence of other congenital abnormalities; outcomes for children with the condition are then more favourable. Both families were provided with reassurance that although the scarring would not disappear completely, and can be of cosmetic concern, CEVD is a nonprogressive condition and thus no specific treatment is indicated.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.019

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0020.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0020.002
Insufficient payload (model declined to judge)0.0060.002

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.

Opus teacher head0.023
GPT teacher head0.360
Teacher spread0.337 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designCase report
Domainnot available
GenreEmpirical

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".

Quick stats

Citations0
Published2024
Admission routes1
Has abstractyes

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