Abstract
Palmoplantar keratodermas comprise a diverse group of acquired and hereditary disorders marked by excessive thickening of the epidermis of palms and soles. Early onset and positive family history suggest a genetic cause. While hereditary forms of palmoplantar keratoderma (PPK) may represent the sole or dominant clinical feature, they may also be associated with other ectodermal defects or extracutaneous manifestations. In recent years, much progress has been made in deciphering the genetic basis of PPK, which has led to the emergence of new disorders and syndromes. The elucidation of disease mechanisms has opened new avenues for specific therapies, increasingly sparking interest in this field. Given the high heterogeneity with respect to clinical features, genetic defects, and disease mechanisms, the classification of PPK is based on various criteria. These include extent of disease manifestations, morphology of palmoplantar skin involvement, inheritance patterns, and molecular pathogenesis. Though not always feasible, the clinical distinction of various PPK entities is based on fine-tuned criteria or clues. Remarkably, apparently distinct disorders have been shown to be allelic, as they are caused by mutations in the same gene...Continue Reading
References
Jan 15, 1999·Human Molecular Genetics·D K ArmstrongA E Hughes
Dec 14, 1999·The Journal of Investigative Dermatology·N V WhittockJ A McGrath
Jan 13, 2000·American Journal of Human Genetics·Y A LeeA Reis
Nov 9, 2000·The British Journal of Dermatology·L MartinL Vaillant
Aug 23, 2002·Archives of Dermatological Research·Wolfgang KüsterHans Christian Hennies
Sep 25, 2003·Human Molecular Genetics·Fabrice ChimientiDaniel Hohl
May 18, 2005·Archives of Dermatology·Hannah KerenEli Sprecher
Jul 1, 2005·Journal of the European Academy of Dermatology and Venereology : JEADV·H CariaG Fialho
Aug 24, 2007·Nature·Laura A B EliasArnold R Kriegstein
Jul 18, 2009·The Journal of Investigative Dermatology·Neil J WilsonFrances J D Smith
Jan 20, 2010·Journal of the American Academy of Dermatology·Reuven BergmanEli Sprecher
Jan 24, 2012·American Journal of Human Genetics·Diana C BlaydonDavid P Kelsell
Sep 25, 2012·American Journal of Human Genetics·Kathrin A GiehlTim M Strom
Apr 9, 2013·The Journal of Investigative Dermatology·Dimitra KiritsiCristina Has
Jul 9, 2013·American Journal of Human Genetics·Diana C BlaydonDavid P Kelsell
Jul 23, 2013·The Journal of Investigative Dermatology·Xu CaoYong Yang
Aug 22, 2013·The Journal of Investigative Dermatology·Dun Jack FuDeena M Leslie Pedrioli
Aug 27, 2013·Nature Genetics·Liat SamuelovEli Sprecher
Mar 8, 2014·Acta Dermato-venereologica·Linshu ZhaoMaritta Hellström Pigg
Mar 29, 2014·Journal of Medical Genetics·Yuval RamotAbraham Zlotogorski
Jul 22, 2014·The British Journal of Dermatology·C HasL Bruckner-Tuderman
Sep 2, 2014·Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG·Stina SchillerSteffen Emmert
Oct 16, 2014·European Journal of Human Genetics : EJHG·Jean-Benoît CourcetLaurence Faivre
Jan 27, 2015·Cell and Tissue Research·Maria KnöbelFrances J D Smith
Apr 19, 2015·Orphanet Journal of Rare Diseases·Sabine Duchatelet, Alain Hovnanian
May 13, 2015·The British Journal of Dermatology·E PohlerM Zamiri
Jun 16, 2015·The Journal of Allergy and Clinical Immunology·Maeve A McAleerAlan D Irvine
Jul 25, 2015·Clinical and Experimental Dermatology·A SulákM Széll
Aug 20, 2015·The British Journal of Dermatology·N A SchlipfJ Fischer
Sep 25, 2015·Journal of Medical Genetics·Laura PolivkaSmail Hadj-Rabia
Citations
Aug 16, 2016·Journal of the European Academy of Dermatology and Venereology : JEADV·S KhalilM Kurban
Dec 27, 2016·The Journal of Investigative Dermatology·Robert GruberPaul Gissen
Mar 1, 2018·Journal of the European Academy of Dermatology and Venereology : JEADV·L GuerraG Zambruno
Feb 6, 2018·Journal of the European Academy of Dermatology and Venereology : JEADV·L GuerraG Zambruno
Oct 28, 2017·Journal of the American Podiatric Medical Association·Rebecca M PorterFrances J D Smith
Sep 18, 2018·The British Journal of Dermatology·C Has
Jan 9, 2020·Journal of Human Genetics·Cherine CharfeddineMourad Mokni
Mar 19, 2019·The British Journal of Dermatology·R L WeinbergM J Caterina
Apr 21, 2020·The British Journal of Dermatology·C BodemerE A O'Toole
Oct 28, 2019·Wellcome Open Research·Kevin Z L WuGopal P Sapkota
Apr 30, 2020·Genes·Katherine A BackelElizabeth A Mauldin
Oct 21, 2020·F1000Research·Catherine Baker, Matthew S Hayden
May 11, 2019·Molecular Genetics & Genomic Medicine·Changxing LiXibao Zhang
Mar 4, 2021·Biomedicines·Dragan CopicMichael Mildner