Evidence map›Paper›PMID 35350521›Full record

ArticleCureus2022

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis: Clinical Presentation.

Andrea Dumenigo, Amanda Rusk, Kalyani Marathe

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Cureus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-weighted citation impact, top 37% of its field
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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Novel Compound Heterozygous Variants inJournal of clinical medicine · 2026
    Article
  2. A novel variant c.7104 + 6T > A ofFrontiers in pediatrics · 2024
    Article
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

3 authors at 3 institutions in 1 country.

Andrea DumenigoInternal Medicine, Philadelphia College of Osteopathic Medicine, Philadelphia, USA.
Amanda RuskPediatric Dermatology, Cincinnati Children's Hospital Medical Center, Cincinnati, USA.
Kalyani MarathePediatric Dermatology, Cincinnati Children's Hospital Medical Center, Cincinnati, USA.
Adult and Pediatric Dermatology · USCincinnati Children's Hospital Medical Center · USPhiladelphia College of Osteopathic Medicine · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autosomal recessive congenital ichthyosis (ARCI) is a group of hereditary, nonsyndromic disorders of keratinization. ARCI encompasses several different clinical presentations and is caused by various genetic mutations. Commonly, ARCI presents with a taut, thick, shiny stratum corneum called a collodion membrane, but patients with mutations in CYP4F22 frequently present only with erythroderma. We report the case of a patient who was heterozygous for a pathogenic variant and a variant of uncertain significance in the CYP4F22 gene and presented with a collodion membrane and developed a mild ichthyosis phenotype.

Indexed as

abnormal keratinizationcollodion membranecongenital ichthyosiscyp4f22cyp4f22- related congenital ichthyosis

Identifiers

PMID35350521
PMCPMC8932220
OpenAlexW4212763632

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 OpenQuestion graph.