Erythrokeratodermia Variabilis

Last update 08 May 2025

Basic Info

Synonyms

Congenital poikiloderma, Darier-Gottron disease, EKV

+ [45]

Introduction

An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals often develop PALMOPLANTAR KERATODERMA.

Clinical Trials associated with Erythrokeratodermia Variabilis

ChiCTR2200059272

/ SuspendedPhase 2IIT

A Basket Trial of the Safety and Efficacy of Ixekizumab in Participants with Autoimmune Inflammatory Skin Diseases

Start Date01 Jun 2022

Sponsor / Collaborator-

100 Clinical Results associated with Erythrokeratodermia Variabilis

100 Translational Medicine associated with Erythrokeratodermia Variabilis

0 Patents (Medical) associated with Erythrokeratodermia Variabilis

352

Literatures (Medical) associated with Erythrokeratodermia Variabilis

01 Apr 2025·Journal of Dermatological Science

A signal peptide variant in SLURP1 with dominant-negative effect causes progressive symmetric erythrokeratodermia

Article

Author: Zhao, Sisi ; Peng, Yunran ; Tang, Zhanli ; Wang, Huijun ; Gong, Zhuoqing ; Lin, Zhimiao

BACKGROUNDProgressive symmetric erythrokeratodermia (PSEK) is a group of hereditary cornification disorders characterized by symmetrical, progressive erythroderma and hyperkeratosis over the body. Loss-of-function variants in SLURP1, encoding secreted Ly-6/uPAR-related protein 1, is known to cause Mal de Meleda, an autosomal recessive palmoplantar keratoderma.OBJECTIVETo identify the genetic basis and the pathogenesis of a sporadic patient with PSEK.METHODSWhole-exome sequencing and Sanger sequencing were performed to identify the pathogenic variant(s). The expression of SLURP1 was assessed on the patient's skin tissue by immunofluorescence. Western blotting (WB) and immunofluorescence (IF) were performed on eukaryotic overexpression systems to evaluate the signal peptide (SP) cleavage, subcellular localization and secretion of the mutant SLURP1. Combined WB and IF analyses were conducted on cells co-transfected with FLAG-tagged wild-type SLURP1 and untagged SLURP1-Ala22Asp.RESULTSWe identified a de novo heterozygous variant in SLURP1 (c.65A > C, p.Ala22Asp) affecting the first residue before SP cleavage site in a patient with PSEK. This variant abolished the cleavage site of SP, resulting in translocation deficiency to the Golgi apparatus and decreased secretion of the mutant SLURP1. We also found that the SLURP1-Ala22Asp exerted a dominant-negative effect by impeding the SP cleavage of the wild-type SLURP1 and affecting its subcellular localization and secretion in a dose-dependent manner.CONCLUSIONWe reported the first autosomal-dominant variant in SLURP1 associated with a new phenotype of PSEK in a patient, emphasizing the genetic and clinical heterogeneity of SLURP1-associated genodermatoses.

01 Mar 2025·The Journal of Dermatology

Novel compound heterozygous MPDU1 variants causing congenital disorders of glycosylation presenting with erythrokeratodermia variabilis

Letter

Author: Mo, Ran ; Wei, Ziyu ; Yang, Yong ; Chen, Zhiming

Here, we describe the first report of an MPDU1-CDG patient, presenting with erythrokeratodermia variabilis.Two MPDU1 (NM_004870.4) variants were identified, including a missense variant c.262G > A (p.Gly88Arg) from his father and a deletion variant c.660_662del (p.Ser221del) from his mother (Figure1e), both of which were previously unreported.No addnl. disease-causing variants in erythrokeratodermia- associated genes were detected, including GJB3 , GJB4 , and GJA.This study reports a novel phenotype of erythrokeratodermia variabilis and two previously unreported MPDU1 variants in MPDU1-CDG, further enriching the clin. manifestations and genetic spectrum of MPDU1-CDG.

24 Feb 2025·Clinical and Experimental Dermatology

Protean cutaneous manifestation caused by ABCA12 variants: erythrokeratodermia variabilis-like ichthyosis and unique palmoplantar keratoderma

Article

Author: Hsu, Chao-Kai ; Tu, Wei Ting ; Yang, Min-Chia ; Lin, Yu-Chen ; Cheng, Hui-Ching ; McGrath, John ; Chang, Chih-Yu

AbstractABCA12 is crucial for skin barrier function and is traditionally linked to severe congenital ichthyoses, such as harlequin ichthyosis. However, its genotype–phenotype relationship may be more nuanced. Using whole-exome sequencing and Sanger sequencing, we identified four cases of mild ichthyosis with biallelic ABCA12 pathogenic variants. In addition to a milder phenotype, the palmoplantar keratoderma (PPK) in these cases had a distinct ‘mosaic tile-like’ pattern. Two cases with missense variants in the N-terminus of ABCA12 also presented an annular ichthyosis pattern resembling erythrokeratodermia variabilis et progressiva. Our findings suggest a correlation between ABCA12 missense variant location and clinical presentation, expanding the phenotypic spectrum associated with ABCA12 variants and highlighting the potential for annular patterns or ‘mosaic tile-like’ PPK in these patients.

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Erythrokeratodermia Variabilis

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