Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense C, Denmark.
Acta Derm Venereol. 2013 May;93(3):309-13. doi: 10.2340/00015555-1447.
A Danish-Swedish collaboration was established to identify and classify a Danish cohort of patients with epidermolytic ichthyosis, also known as epidermolytic hyperkeratosis. Patients were recruited from 5 dermatology departments in Denmark, and data were obtained using a structured questionnaire and a systematic examination together with photographs, histopathological descriptions and blood samples for mutational analysis. Sixteen patients from 12 families with generalized or naevoid epidermolytic ichthyosis and ichthyosis bullosa of Siemens were identified. Five families had mutations in K1 and 6 families had mutations in K10. Nine patients had been treated with systemic retinoids (etretinate, acitretin, isotretinoin or alitretinoin), but only 3 patients had acceptable treatment responses and chose to continue therapy. In conclusion epidermolytic ichthyosis is a rare disease with a prevalence of approximately 1 in 350,000 in Denmark and a high percentage of de novo mutations (75%). We identified 4 novel disease-causing mutations.
丹麦-瑞典合作建立了一个合作项目，旨在对丹麦一组患有表皮松解性鱼鳞病（又称表皮松解性角化过度症）的患者进行鉴定和分类。这些患者是从丹麦的 5 个皮肤科招募的，通过使用结构化问卷和系统检查，以及拍摄照片、组织病理学描述和血液样本进行基因突变分析，收集了相关数据。共发现 16 名来自 12 个家族的具有全身性或斑状表皮松解性鱼鳞病和 Siemens 大疱性鱼鳞癣的患者。其中 5 个家族存在 K1 基因突变，6 个家族存在 K10 基因突变。9 名患者接受了全身性维甲酸（依曲替酯、阿维 A 酯、异维 A 酸或阿利维 A 酸）治疗，但只有 3 名患者有可接受的治疗反应并选择继续治疗。总之，表皮松解性鱼鳞病是一种罕见疾病，在丹麦的患病率约为每 35 万人中有 1 例，且新发突变的比例较高（75%）。我们鉴定出了 4 种新的致病突变。
