Prohić Asja, Selmanagić Almira, Bilalović Nurija
Department of Dermatovenereology, Sarajevo University, Clinical Center, Bolnicka 25 ,71000 Sarajevo, Bosnia and Herzegovina.
Acta Dermatovenerol Croat. 2007;15(1):20-3.
Epidermolytic hyperkeratosis (EHK) or bullous congenital ichthyosiform erythroderma is a rare autosomal dominant disorder characterized by an early onset, with erythroderma and bullous lesions, leading to severe generalized hyperkeratosis in adulthood. Mutations have been found in keratin 1 and keratin 10 genes. The clinical manifestations of EHK present striking heterogeneity and at least six clinical phenotypes have been identified. We report on a case of EHK in a 12-year-old girl with erythroderma, erosions and blisters on the entire body surface at birth and generalized hyperkeratosis but without severe palm and sole involvement in the later stage. On the basis of clinical and histopathologic findings, the diagnosis of EHK type NPS-3 was made.
表皮松解性角化过度（EHK）或大疱性先天性鱼鳞病样红皮病是一种罕见的常染色体显性遗传病，其特征为发病早，伴有红皮病和大疱性皮损，成年后会发展为严重的全身性角化过度。已发现角蛋白1和角蛋白10基因存在突变。EHK的临床表现具有显著异质性，已确定至少六种临床表型。我们报告一例12岁女孩的EHK病例，该女孩出生时全身皮肤呈红皮病、糜烂和水疱，后期出现全身性角化过度，但手掌和足底未严重受累。根据临床和组织病理学检查结果，诊断为NPS - 3型EHK。
