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 ...
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 ...
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 ...
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 ...
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 (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 ...