Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis

Kemal Ozyurt; Asli Subasioglu; Perihan Ozturk; Rahime Inci; Fuat Ozkan; Elena Bueno; Javier Cañueto; Rogelio González Sarmiento

doi:10.4103/0019-5154.152570

Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis

Indian J Dermatol. 2015 Mar-Apr;60(2):216. doi: 10.4103/0019-5154.152570.

Authors

Kemal Ozyurt¹, Asli Subasioglu², Perihan Ozturk¹, Rahime Inci¹, Fuat Ozkan³, Elena Bueno⁴, Javier Cañueto⁵, Rogelio González Sarmiento⁴

Affiliations

¹ Department of Dermatology, Sutcu Imam University, School of Medicine, Kahramanmaras, Turkey.
² Department of Medical Genetics, Izmir Katip Celebi University, Ataturk Training and Research Hospital, Izmir, Turkey.
³ Department of Radiology, Sutcu Imam University, School of Medicine, Kahramanmaras, Turkey.
⁴ Department of Molecular Medicine, University of Salamanca, Salamanca, Spain.
⁵ Department of Dermatology, University Hospital of Salamanca, Salamanca, Spain.

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.

Keywords: Conradi-Hünermann-Happle syndrome; X-linked dominant chondrodysplasia punctata; emopamil binding protein mutation; plaque-type psoriasis.