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.
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http://dx.doi.org/10.4103/2229-5178.120674 | DOI Listing |
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 PDFClin Exp Dermatol
November 2024
Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan.
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 PDFJ Pak Med Assoc
September 2024
Department of Dermatology, PNS Shifa Hospital, Karachi, Pakistan.
Pediatr Dermatol
November 2024
Department of Dermatology-Venereology and Allergology, Universitätsklinikum Schleswig-Holstein, Kiel, Germany.
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 PDFJ 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.
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