Evidence map›Paper›PMID 41262265›Full record

ArticleIndian journal of dermatology

Nevoid Basal Cell Carcinoma Syndrome: Three Cases from the Same Family.

Ying Yan, Huajie Zhong, Xue Xu, Yuan Wu, Yingming Ma, Xiaolei Xie

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Indian journal of dermatology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Ying YanFrom the Department of Dermatology, Huzhou Central Hospital, Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, Affiliated Central Hospital of Huzhou University, Huzhou, Zhejiang, China.
Huajie ZhongFrom the Department of Dermatology, Huzhou Central Hospital, Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, Affiliated Central Hospital of Huzhou University, Huzhou, Zhejiang, China.
Xue XuFrom the Department of Dermatology, Huzhou Central Hospital, Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, Affiliated Central Hospital of Huzhou University, Huzhou, Zhejiang, China.
Yuan WuFrom the Department of Dermatology, Huzhou Central Hospital, Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, Affiliated Central Hospital of Huzhou University, Huzhou, Zhejiang, China.
Yingming MaFrom the Department of Dermatology, Huzhou Central Hospital, Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, Affiliated Central Hospital of Huzhou University, Huzhou, Zhejiang, China.
Xiaolei XieFrom the Department of Dermatology, Huzhou Central Hospital, Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, Affiliated Central Hospital of Huzhou University, Huzhou, Zhejiang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease caused by PTCH gene mutation. Despite sporadic cases and case series reported worldwide, few pedigrees have been described. In this report, we showed 3 cases from the same family, all presenting with multiple craniofacial basal cell carcinoma (BCC) and spot-like depressions of the palm, with or without mandibular cysts and metacarpal malformations. Whole-genome sequencing revealed heterozygous missense mutation of PTCH-1 gene (c.1526G>A) in these patients, led to a diagnosis of NBCCS. Early recognition of NCBBS is of great significance to avoid disease progression.

Indexed as

Basal-cell carcinomagenetic diseasenevoid basal cell carcinoma syndromePtch1

Identifiers

PMID41262265
PMCPMC12626366

What Socratic holds

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LicenceCC BY-NC-SA
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.