title: Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis.
abstract: Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones, and eyes. CDPX2 patients display skin defects, including ichthyotic lesions, follicular atrophoderma, cicatricial alopecia, and less frequently ichthyosiform erythroderma, cataracts, and skeletal abnormalities consisting of short stature, asymmetric shortening of the limbs, epiphyseal stippling, and craniofacial defects. CDPX2 results from mutations in emopamil binding protein (EBP) gene. The aim of our study is to identify EBP mutation in a unique case of Conradi-Hünermann-Happle syndrome with rare psoriasiform lesions.
authors: Department of Dermatology, Sutcu Imam University, School of Medicine, Kahramanmaras, Turkey.
authors: Kemal
authors: K
authors: Ozyurt
authors: Department of Medical Genetics, Izmir Katip Celebi University, Ataturk Training and Research Hospital, Izmir, Turkey.
authors: Asli
authors: A
authors: Subasioglu
authors: Department of Dermatology, Sutcu Imam University, School of Medicine, Kahramanmaras, Turkey.
authors: Perihan
authors: P
authors: Ozturk
authors: Department of Dermatology, Sutcu Imam University, School of Medicine, Kahramanmaras, Turkey.
authors: Rahime
authors: R
authors: Inci
authors: Department of Radiology, Sutcu Imam University, School of Medicine, Kahramanmaras, Turkey.
authors: Fuat
authors: F
authors: Ozkan
authors: Department of Molecular Medicine, University of Salamanca, Salamanca, Spain.
authors: Elena
authors: E
authors: Bueno
authors: Department of Dermatology, University Hospital of Salamanca, Salamanca, Spain.
authors: Javier
authors: J
authors: Cañueto
authors: Department of Molecular Medicine, University of Salamanca, Salamanca, Spain.
authors: Rogelio
authors: R
authors: González Sarmiento
keywords: Conradi-Hünermann-Happle syndrome; X-linked dominant chondrodysplasia punctata; emopamil binding protein mutation; plaque-type psoriasis