Erythrokeratodermia variabilis: Two case reports.

Indian Dermatol Online J

Department of Pathology, Faculty of Medicine, Yuzuncu Yil University, Van, Turkey.

Published: October 2013

Erythrokeratodermia variabilis (EKV) is a rare heterogeneous skin disorder. The classical EKV first described by Mendes da Costa is characterized by two types of skin lesions: (1) figurate hyperkeratotic plaques, and (2) transient erythematous areas. Herein, we report two patients presenting with erythematous and hyperkeratotic lesions that were histopathologically diagnosed with EKV.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853906PMC
http://dx.doi.org/10.4103/2229-5178.120674DOI Listing

Publication Analysis

Top Keywords

erythrokeratodermia variabilis
8
variabilis case
4
case reports
4
reports erythrokeratodermia
4
variabilis ekv
4
ekv rare
4
rare heterogeneous
4
heterogeneous skin
4
skin disorder
4
disorder classical
4

Similar Publications

The genetic and molecular basis of a connexin-linked skin disease.

Biochem J

November 2024

Department of Physiology and Pharmacology, University of Western Ontario, London, ON, Canada.

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare hereditary skin disorder characterized by hyperkeratotic plaques and erythematous patches that progressively worsen with age. This disorder has been associated with variants in three connexin encoding genes (GJA1, GJB3, GJB4) and four unrelated genes (KRT83, KDSR, TRPM4, PERP). Most cases of connexin-linked EKVP exhibit an autosomal dominant mode of inheritance, with rare autosomal recessive cases.

View Article and Find Full Text PDF

ABCA12 is crucial for skin barrier function and traditionally linked to severe congenital ichthyosis, 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.

View Article and Find Full Text PDF
Article Synopsis
  • Erythrokeratodermia variabilis (EKV) is a rare genetic skin condition that involves changing red patches and fixed thick areas of skin, typically starting in infancy.
  • A case is presented where a patient experienced EKV symptoms for the first time as an adult, which worsened during pregnancy but improved spontaneously after childbirth.
  • After trying a crash diet, the patient developed more persistent symptoms that didn't resolve on their own, but showed significant improvement with treatment using systemic retinoids.
View Article and Find Full Text PDF

Chanarin-Dorfman syndrome (CDS) is a multisystem autosomal recessive disorder due to variants of the ABHD5 gene, characterized by lipid vacuoles in the liver and leukocytes, and possible involvement of eyes, ears, skeletal muscle, and central nervous system. CDS may present with skin changes, most commonly congenital non- bullous ichthyosiform erythroderma, however erythrokeratoderma-like findings have been rarely reported in CDS patients. Herein, we report clinical, histopathological and genetic findings of four patients with CDS presenting with different clinical forms of erythrokeratoderma (three with progressive symmetric erythrokeratoderma-like features and one with erythrokeratoderma variabilis (EKV)-like features), including one patient with a novel mutation in ABHD5.

View Article and Find Full Text PDF

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

J Dermatol

June 2024

Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!