Evidence map›Paper›PMID 37996925›Full record

ArticleItalian journal of pediatrics2023

Erythropoietic protoporphyria: case reports for clinical and therapeutic hints.

Cristina Tumminelli, Francesca Burlo, Serena Pastore, Giovanni Maria Severini, Irene Berti, Stefano Marchini, Davide Zanon, Eleonora De Martino, Alberto Tommasini

Erratum issuedOpen access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Italian journal of pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 32% 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, 3 citations in OpenAlex.

  1. Review
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 3 institutions in 1 country.

Cristina TumminelliDepartment of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy.ORCID http://orcid.org/0000-0002-4782-8468
Francesca BurloDepartment of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy.
Serena PastoreDepartment of Pediatrics, Institute for Maternal and Child Health "IRCCS Burlo Garofolo", Via dell'Istria, 65, Trieste, 34137, Italy. serena.pastore@burlo.trieste.it.
Giovanni Maria SeveriniDepartment of Medical Genetics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
Irene BertiDepartment of Pediatrics, Institute for Maternal and Child Health "IRCCS Burlo Garofolo", Via dell'Istria, 65, Trieste, 34137, Italy.
Stefano MarchiniDepartment of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Via del Pozzo 71, Modena, 41124, Italy.
Davide ZanonPharmacy and Clinical Pharmacology Department, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Eleonora De MartinoDepartment of Pediatrics, Institute for Maternal and Child Health "IRCCS Burlo Garofolo", Via dell'Istria, 65, Trieste, 34137, Italy.
Alberto TommasiniDepartment of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy.
IRCCS Materno Infantile Burlo Garofolo · ITUniversity of Trieste · ITUniversity of Modena and Reggio Emilia · IT

Funding

Ministero della Salute Ministero della Salute
6 · The paper itself

Abstract

backgroundErythropoietic protoporphyria is a rare disorder which represents an important health problem in children, causing painful photosensitivity. Little is known on the correlation between genetic profile and clinical manifestations. The standard of care for Erythropoietic protoporphyria is based on avoiding sun and using sun protections, but recent literature has suggested that cimetidine may have a role in improving sun sensitivity. Herein we report our case series describing the successful use of cimetidine and analyzing potential phenotype-genotype correlations. CASE PRESENTATION: This case series describes five patients presented to our Rheumatology Service complaining sun sensitivity. Blood exams and genetic analysis were consistent with the diagnosis of erythropoietic protoporphyria. Four of 5 patients received cimetidine in addition to standard therapies and the effect of treatment was evaluated by Erythropoietic Protoporphyria - Quality of Life questionnaire.

conclusionsErythropoietic protoporphyria usually manifests in early childhood after a short sun exposure. Skin manifestations are the main reason for investigations, although sometimes they can be more subtle, leading to a significant diagnostic delay. Skin diseases in children can have profound effects on their family and social relationships. A treatment with cimetidine appears to be an excellent therapeutic option in children with Erythropoietic protoporphyria.

Indexed as

Photosensitivity DisordersProtoporphyria, ErythropoieticChildChild, PreschoolCimetidineDelayed DiagnosisFerrochelataseHumansQuality of LifeCimetidineFerrochelataseChildren porphyriaCimetidineFerrochelatase genePhotosensitivityPorphyria

Identifiers

PMID37996925
PMCPMC10668413
OpenAlexW4388941677

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.