Co-Occurrence of Hypohidrotic Ectodermal Dysplasia and Food Protein-Induced Enterocolitis Syndrome: A Report of a New Ectodysplasin A Variant.

Déborah Salik, Florine Moulart, Martina Marangoni, Dimitrios Salamouras, Marie-Sophie André, Catheline Vilain

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In one paragraph

Article in Skin appendage disorders, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

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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

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3 · Its place in the literature

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0 citing papers in PubMed, 0 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Déborah SalikInter-Hospital Department of Dermatology, CHU Saint-Pierre, CHU Brugmann and HUDERF, Université Libre de Bruxelles, Brussels, Belgium.

Florine MoulartFaculty of Medicine, Université Libre de Bruxelles, Brussels, Belgium.

Martina MarangoniDepartment of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.

Dimitrios SalamourasDepartment of Pediatric, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.

Marie-Sophie AndréInter-Hospital Department of Dermatology, CHU Saint-Pierre, CHU Brugmann and HUDERF, Université Libre de Bruxelles, Brussels, Belgium.

Catheline VilainDepartment of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.

Université Libre de Bruxelles · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Ectodermal dysplasias (EDs) are a large group of rare and complex genetic disorders, affecting the development of two or more ectodermal structures. Hypohidrotic ED (HED) is the most frequent ED's phenotype and is characterized by hypodontia, hypotrichosis, and hypo/anhidrosis, leading to heat intolerance and hyperthermia. Case Presentation: We report a case of a 2-year-old girl with hair and teeth abnormalities associated with severe digestive symptoms responsible for failure to thrive. Genetic analysis by mass sequencing in parallel on a 4,867-gene panel was performed in duo (index case and her mother). The girl showed the presence of a new de novo c.100dupG variant in Conclusion: We describe a patient with HED and a new

Indexed as

EDAFood protein-induced enterocolitis syndromeHypohidrotic ectodermal dysplasia

Identifiers

PMID36632363

DOI10.1159/000526428

PMCPMC9827719

OpenAlexW4296082050

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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.