Evidence map›Paper›PMID 32822789›Full record

ArticleJournal of the American Academy of Dermatology2021

Cutaneous findings in Fanconi anemia.

Jenna L Ruggiero, Melissa Dodds, Rebecca Freese, Ingrid C Polcari, Sheilagh Maguiness, Kristen P Hook, Christina Boull

Open access · greenAbstract read
In one paragraph

Article in Journal of the American Academy of Dermatology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 23% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.

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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

7 authors at 2 institutions in 1 country.

Jenna L RuggieroUniversity of Minnesota Medical School-Twin Cities, Minneapolis, Minnesota. Electronic address: ruggi020@umn.edu.
Melissa DoddsDepartment Dermatology, University of Minnesota, Minneapolis, Minnesota; Department Pediatrics, University of Minnesota, Minneapolis, Minnesota.
Rebecca FreeseClinical and Translational Science Institute, University of Minnesota, Minneapolis, Minnesota.
Ingrid C PolcariDepartment Dermatology, University of Minnesota, Minneapolis, Minnesota; Department Pediatrics, University of Minnesota, Minneapolis, Minnesota.
Sheilagh MaguinessDepartment Dermatology, University of Minnesota, Minneapolis, Minnesota; Department Pediatrics, University of Minnesota, Minneapolis, Minnesota.
Kristen P HookDepartment Dermatology, University of Minnesota, Minneapolis, Minnesota; Department Pediatrics, University of Minnesota, Minneapolis, Minnesota.
Christina BoullDepartment Dermatology, University of Minnesota, Minneapolis, Minnesota; Department Pediatrics, University of Minnesota, Minneapolis, Minnesota.
University of Minnesota · USTwin Cities Orthopedics · US

Funding

University of Minnesota Clinical and Translational Science Institute (UMN CTSI)UL1TR002494 · NCATS · UNIVERSITY OF MINNESOTA · PI BLAZAR, BRUCE R, WEISDORF, DANIEL J · 2018 to 2022
$34.9M
NCATS NIH HHS UL1 TR002494
6 · The paper itself

Abstract

backgroundFanconi anemia (FA) is a genetic disorder that results in bone marrow failure, physical abnormalities, and solid organ malignancies. The diagnosis of FA is often delayed because the early disease characteristics have not been well established.

objectiveTo outline the spectrum of cutaneous findings seen in patients with FA.

methodsA cross-sectional study in which patients with FA received a full-body skin examination. Patient characteristics are summarized with mean (SD) for continuous and count (%) for categorical variables. Poisson regression and logistic regression models were used to examine the relationships between pigmentary changes and patient characteristics.

resultsAt least 1 cutaneous pigmentary alteration was present in 96.8% of patients, most arising before the teenage years. The most common finding was café-au-lait macules. Other findings included hypopigmented macules, skin-fold freckle-like macules, extensive sun-exposed freckling, and both hypopigmented and hyperpigmented pigment macules. LIMITATIONS: Patients received a single assessment, so the number of pigmentary changes could not be assessed over time.

conclusionsCharacteristic morphology of FA includes faint and ill-defined café-au-lait macules, hypopigmented skin-fold freckle-like macules and the concurrence of hypopigmented and hyperpigmented macules. The recognition of these findings could aid clinicians in making earlier diagnoses.

Indexed as

Fanconi AnemiaAdolescentCafe-au-Lait SpotsCross-Sectional StudiesHumansHyperpigmentationMelanosiscafé-au-lait maculesdiagnosisFanconi anemiagraft-versus-host diseasehematopoietic stem cell transplantationhyperpigmentationhyperpigmented maculeshypopigmentationhypopigmented maculesradiationskin-fold freckle-like maculesskin-fold frecklingsun-exposed frecklingvoriconazole

Identifiers

PMID32822789
PMCPMC7889753
OpenAlexW3072708356

What OpenQuestion holds

Textmetadata
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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.