Tylosis palmoplantaris is an autosomal dominant disorder characterized by hyperkeratosis of palms and soles. Lesions start during childhood and are more evident in areas of pressure. Familial tylosis palmoplantaris comprises two forms: epidermolytic and non-epidermolytic. Patients with the epidermolytic variant have up to 40% higher chance of developing squamous cell carcinoma of the esophagus. The association of tylosis palmoplantaris with esophageal cancer is called Howel-Evans syndrome.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1590/s0365-05962009000500014 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Pathological mutations reveal the key role of the cytosolic iRhom2 N-terminus for phosphorylation-independent 14-3-3 interaction and ADAM17 binding, stability, and activity.
Cell Mol Life Sci
February 2024
Institute of Molecular Pharmacology, Medical Faculty, RWTH Aachen University, Wendlingweg 2, 52074, Aachen, Germany.
The protease ADAM17 plays an important role in inflammation and cancer and is regulated by iRhom2. Mutations in the cytosolic N-terminus of human iRhom2 cause tylosis with oesophageal cancer (TOC). In mice, partial deletion of the N-terminus results in a curly hair phenotype (cub).
View Article and Find Full Text PDFAnalysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice.
J Cell Sci
July 2023
Tri-Institutional MD/PhD Program, Memorial Sloan Kettering Cancer Center, Weill Cornell Medicine, The Rockefeller University, New York, NY 10021, USA.
Tylosis with oesophageal cancer (TOC) is a rare familial disorder caused by cytoplasmic mutations in inactive rhomboid 2 (iRhom2 or iR2, encoded by Rhbdf2). iR2 and the related iRhom1 (or iR1, encoded by Rhbdf1) are key regulators of the membrane-anchored metalloprotease ADAM17, which is required for activating EGFR ligands and for releasing pro-inflammatory cytokines such as TNFα (or TNF). A cytoplasmic deletion in iR2, including the TOC site, leads to curly coat or bare skin (cub) in mice, whereas a knock-in TOC mutation (toc) causes less severe alopecia and wavy fur.
View Article and Find Full Text PDFiRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility.
J Invest Dermatol
April 2021
Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom. Electronic address:
The palmoplantar epidermis is a specialized area of the skin that undergoes high levels of mechanical stress. The palmoplantar keratinization and esophageal cancer syndrome, tylosis with esophageal cancer, is linked to mutations in RHBDF2 encoding the proteolytically inactive rhomboid protein, iRhom2. Subsequently, iRhom2 was found to affect palmoplantar thickening to modulate the stress keratin response and to mediate context-dependent stress pathways by p63.
View Article and Find Full Text PDFPalmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.
Am J Med Genet A
February 2020
Research Laboratory, KK Women's & Children's Hospital, Singapore.
Haim-Munk syndrome (HMS) and Papillon-Lefevre syndrome (PLS) are phenotypic variants of palmoplantar keratoderma (PPK) with progressive early-onset periodontitis and dental caries. HMS and PLS have been associated with homozygous or compound heterozygous mutations in the lysosomal protease gene Cathepsin C (CTSC). There have been only a few documented cases of CTSC mutations in patients from South-East Asia.
View Article and Find Full Text PDFWhole Exome Sequencing Identified a Novel Mutation of the RHBDF2 Gene in a Chinese Family of Tylosis with Esophageal Cancer.
Acta Derm Venereol
June 2019
Department of Dermatology, The First Hospital of China Medical University, 110001 Shenyang, China.
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!