Indian Journal of Dermatology
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E-IJD CASE REPORT
Year : 2015  |  Volume : 60  |  Issue : 2  |  Page : 216

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


1 From the 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

Correspondence Address:
Dr. Asli Subasioglu
Department of Medical Genetics, Erciyes University School of Medicine, Talas, Kayseri - 38039
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.152570

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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.


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