Metze Dieter, Traupe Heiko, Süßmuth Kira
Klinik für Hautkrankheiten, Universitätsklinik Münster, 48149 Münster, Germany.
Dermatopathology (Basel). 2021 May 7;8(2):107-123. doi: 10.3390/dermatopathology8020017.
Ichthyoses are inborn keratinization disorders affecting the skin only (non-syndromic) or are associated with diseases of internal organs (syndromic). In newborns, they can be life-threatening. The identification of the gene defects resulted in reclassification and a better understanding of the pathophysiology. Histopathologic patterns include orthohyperkeratosis with a reduced or well-developed stratum granulosum, hyperkeratosis with ortho- and parakeratosis with preserved or prominent stratum granulosum, and epidermolytic ichthyosis. Another pattern features "perinuclear vacuoles and binucleated keratinocytes", which is associated with keratin mutations. Some ichthyoses are histologically defined by psoriasis-like features, and distinct subtypes show follicular hyperkeratosis. In addition to histological and immunohistochemical methods, these patterns allow a better histopathologic diagnosis.
鱼鳞病是仅影响皮肤的先天性角质化障碍（非综合征性）或与内脏疾病相关（综合征性）。在新生儿中，它们可能危及生命。基因缺陷的鉴定导致了重新分类并更好地理解了病理生理学。组织病理学模式包括角质层增厚伴颗粒层减少或发育良好、角质层增厚伴正角化和不全角化且颗粒层保留或突出，以及表皮松解性鱼鳞病。另一种模式的特征是“核周空泡和双核角质形成细胞”，这与角蛋白突变有关。一些鱼鳞病在组织学上由银屑病样特征定义，不同亚型表现为毛囊角化过度。除了组织学和免疫组织化学方法外，这些模式有助于更好地进行组织病理学诊断。
