Rare genetic skin diseases
Main Fields of Research
The main focus of our group is on clinical research in the field of rare and genetic skin diseases. We investigate the phenotype and genotype correlation as well as quality of live aspects in patients with basal cell nevus syndrome and patients with palmoplantar keratoderma. Specific clinical and histological aspects are investigated in disseminated and systemic juvenile xanthogranulomatosis.
In the field of healthcare research an especially developed App (to improve motivation and clinical care in children with ichthyosis) is currently being investigated. As an active member of the European Reference Network for Skin disorders (ERN-skin) we coorporate with other European specialists on different clinical research projects to improve patient care in rare skin diseases.
Prof. Kathrin Giehl, MD
Gabriela Frömel, MD student
Adriana Usheva, MD student
Theresa Schöniger, MD student
Perlya Roussel, MD student
» Vural S, Gündoğdu M, Gökpınar İli E, Durmaz CD, Vural A, Steinmüller-Magin L, Kleinhempel A, Holdt LM, Ruzicka T, Giehl KA, Ruhi HI, Boyvat A. Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study. Br J Dermatol 2019;180 (6):1459-1467
» De Palma AM, Mazereeuw-Hautier J, Giehl K, Hernández- Martin A, Merlos M, Moons P, Morren MA. Burden of itch in ichthyosis: a multicentre study in 94 patients. J Eur Acad Dermatol Venereol 2019;33 (11):2095-2100
» Niculescu L, Wagner M, Westphal DS, Fischer M, Mihatsch W, Prothmann A, Ruzicka T, Wollenberg A, Wolff H, Schmidt H, Giehl KA. A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders. Acta Derm Venereol 2019;1;99 (1):111-112
» Niculescu L, Ruini C, Srour J, Salzer S, Schönbuchner I, von Braunmühl T, Ruzicka T, Hohenleutner U, Giehl KA, Fischer J, Wollenberg A. Tazarotene 0.015% Cream as a Potential Topical Agent for Management of Ichthyosis in Dorfman-Chanarin Syndrome. Acta Derm Venereol 2019;99 (3):345-346
» Hayani K, Giehl K, Kumbrink J, Fischer J, Schlaak M, French LE, Wollenberg A.Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle. Acta Derm Venereol 2020 Aug 18