Dermatology

Dermatology

Recent Submissions

  • Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes 
    Jacyk, Witold Kamil; Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; Van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara; Schanze, Denny; Zerfas, Patricia M.; Zambruno, Giovanna; Kariminejad, Ariana; Sabbagh-Kermani, Farahnaz; Lee, Janice; Tsokos, Maria G.; Lee, Chyi-Chia R.; Ferraz, Victor; Da Silva, Eduarda Morgana; Stevens, Cathy A.; Roche, Nathalie; Bartsch, Oliver; Farndon, Peter; Bermejo-Sanchez, Eva; Brooks, Brian P.; Maduro, Valerie; Dallapiccola, Bruno; Ramos, Feliciano J.; Chung, Hon-Yin Brian; Le Caignec, Cedric; Martins, Fabiana; Mazzanti, Laura; Brunner, Han G.; Bakkers, Jeroen; Lin, Shuo; Malicdan, May Christine V.; Boerkoel, Cornelius F.; Gahl, William A.; De Vries, Bert B.A.; Van Haelst, Mieke M.; Zenker, Martin; Markello, Thomas C.; Venselaar, Hanka (Cell Press, 2015-07)
    Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive ...
  • Chronic ulcerative stomatitis and lichen planus : just a coincidence or a direct link between the two diseases? 
    Jacyk, Witold Kamil; Fourie, Jeanine; Van Heerden, Willem Francois Petrus (Cornetis Publishing House, 2012)
    Chronic ulcerative dermatitis (CUS) is characterized by painful exacerbating and remitting oral erosions and ulcerations. A very characteristic direct immunofluorescence (DIF) pattern differentiates CUS from other ...
  • Carbamazepine-induced Stevens-Johnson syndrome sparing the skin previously affected by Herpes Zoster infection in a patient with Systemic Lupus Erythematosus : a reverse isotopic phenomenon 
    Tenea, Daniela (Karger, 2010-05)
    The reverse isotopic response is a rarely encountered phenomenon. The spared lesions are various and mainly inflammatory in nature, with herpes zoster infection being the most common. A novel case of Stevens-Johnson syndrome ...
  • Heliotherapy : a South African perspective 
    Moosa, Yaaseen; Esterhuyse, D.J. (Daniel Johannes) (Health and Medical Publishing Group, 2010-11)
    The research objective was to gather and collate data that will enable dermatologists to quantify exposure to solar radiation so that they can give accurate advice to patients using heliotherapy, thereby minimising harm ...
  • Revised nomenclature and classification of inherited ichthyoses : results of the first ichthyosis consensus conference in Sorèze 2009 
    Oji, Vinzenz; Tadini, Gianluca; Akiyama, Masashi; Bardon, Claudine Blanchet; Bodemer, Christine; Bourrat, Emmanuelle; Coudiere, Philippe; DiGiovanna, John J.; Elias, Peter; Fischer, Judith; Fleckman, Philip; Gina, Michal; Harper, John; Hashimoto, Takashi; Hausser, Ingrid; Hennies, Hans Christian; Hohl, Daniel; Hovnanian, Alain; Ishida-Yamamoto, Akemi; Jacyk, Witold Kamil; Leachman, Sancy; Leigh, Irene; Mazereeuw-Hautier, Juliette; Milstone, Leonard; Morice-Picard, Fanny; Paller, Amy S.; Richard, Gabriele; Schmuth, Matthias; Shimizu, Hiroshi; Sprecher, Eli; Van Steensel, Maurice; Taieb, Alain; Toro, Jorge R.; Vabres, Pierre; Vahlquist, Anders; Williams, Mary; Traupe, Heiko (American Academy of Dermatology, 2010-10)
    BACKGROUND: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument. Over the recent years, much progress ...
  • Pagetoid reticulosis with CD30 positivity and cytotoxic/suppressor cells 
    Jacyk, Witold Kamil; Grayson, Wayne; Dinkel, Jurgen Erich; Requena, Luis (Blackwell, 2007-08)
    Pagetoid reticulosis (PR), also named Woringer-Kolopp disease, is a low-grade primary cutaneous T-cell lymphoma that usually presents as a solitary, slowly enlarging erythematous or hyperkeratotic plaque on the distal areas ...