Evidence map›Paper›PMID 38103162›Full record

ReviewClinical reviews in allergy & immunology2023

Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.

Leszek Blicharz, Joanna Czuwara, Lidia Rudnicka, Antonio Torrelo

Open access · hybridAbstract readReview
In one paragraph

Review in Clinical reviews in allergy & immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
1.8field-weighted citation impact, top 14% 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

10 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Rupioid Porokeratosis on the Lower Leg: An Unprecedented Case Report.Clinical, cosmetic and investigational dermatology · 2026
    Article
  3. Review
  4. Article
  5. Hypocalcemia-related pustulosis: a case report.Journal of medical case reports · 2025
    Article
  6. Impact ofJournal of clinical medicine · 2025
    Article
  7. Review
  8. Article
  9. Review
  10. Review
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

4 authors at 2 institutions in 2 countries.

Leszek BlicharzDepartment of Dermatology, Medical University of Warsaw, 02-008, Warsaw, Poland.ORCID http://orcid.org/0000-0002-7633-4168
Joanna CzuwaraDepartment of Dermatology, Medical University of Warsaw, 02-008, Warsaw, Poland. joanna.czuwara@wum.edu.pl.ORCID http://orcid.org/0000-0001-6139-7281
Lidia RudnickaDepartment of Dermatology, Medical University of Warsaw, 02-008, Warsaw, Poland.ORCID http://orcid.org/0000-0002-8308-1023
Antonio TorreloDepartment of Dermatology, University Children's Hospital Niño Jesús, 28009, Madrid, Spain. atorrelo@aedv.es.ORCID http://orcid.org/0000-0002-5940-6916
Medical University of Warsaw · PLHospital Infantil Universitario Niño Jesús · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recent advances in medical genetics elucidated the background of diseases characterized by superficial dermal and epidermal inflammation with resultant aberrant keratosis. This led to introducing the term autoinflammatory keratinization diseases encompassing entities in which monogenic mutations cause spontaneous activation of the innate immunity and subsequent disruption of the keratinization process. Originally, autoinflammatory keratinization diseases were attributed to pathogenic variants of CARD14 (generalized pustular psoriasis with concomitant psoriasis vulgaris, palmoplantar pustulosis, type V pityriasis rubra pilaris), IL36RN (generalized pustular psoriasis without concomitant psoriasis vulgaris, impetigo herpetiformis, acrodermatitis continua of Hallopeau), NLRP1 (familial forms of keratosis lichenoides chronica), and genes of the mevalonate pathway, i.e., MVK, PMVK, MVD, and FDPS (porokeratosis). Since then, endotypes underlying novel entities matching the concept of autoinflammatory keratinization diseases have been discovered (mutations of JAK1, POMP, and EGFR). This review describes the concept and pathophysiology of autoinflammatory keratinization diseases and outlines the characteristic clinical features of the associated entities. Furthermore, a novel term for NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED) describing the spectrum of autoinflammatory keratinization diseases secondary to NLRP1 mutations is proposed.

Indexed as

KeratosisPsoriasisCARD Signaling Adaptor ProteinsGuanylate CyclaseHumansImmunity, InnateInflammationInterleukinsMembrane ProteinsMutationCARD14 protein, humanCARD Signaling Adaptor ProteinsGuanylate CyclaseIL36RN protein, humanInterleukinsMembrane ProteinsAutoinflammationAutoinflammatory keratinization diseasesCARD14IL36RNNADEDNLRP1

Identifiers

PMID38103162
PMCPMC10847199
OpenAlexW4389832829

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.