Ansari Qudsiya A, Singh Vinaya A, Randad Kailas G, Bansal Prasoon
Department of Paediatrics, Topiwala National Medical College, Mumbai, Maharashtra, India.
J Family Med Prim Care. 2023 Nov;12(11):2990-2993. doi: 10.4103/jfmpc.jfmpc_1080_23. Epub 2023 Nov 21.
The ichthyosis, also called disorders of keratinization or cornification, are heterogeneous group of disorders characterized by a generalized scaling of the skin of varying severity. The majority of ichthyosis is inherited but acquired forms can develop in the setting of malignancy, autoimmune or infectious disease, and nutritional deficiency. Autosomal recessive congenital ichthyosis, which include lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis, are rare; their overall incidence has been estimated at approximately 1 in 300,000 births. In this article, we described four cases of congenital ichthyosis, their potential complications, causes of morbidity and mortality, and discussed the management and importance of genetic testing for diagnosis as definitive diagnosis is important for long-term management and counseling of the parents.
鱼鳞病，也称为角化或角质化障碍，是一组异质性疾病，其特征是皮肤出现不同严重程度的全身性鳞屑。大多数鱼鳞病是遗传性的，但获得性形式可在恶性肿瘤、自身免疫性或感染性疾病以及营养缺乏的情况下发生。常染色体隐性先天性鱼鳞病，包括板层状鱼鳞病、先天性鱼鳞病样红皮病和丑角鱼鳞病，较为罕见；据估计，其总体发病率约为每30万例出生中1例。在本文中，我们描述了4例先天性鱼鳞病病例、其潜在并发症、发病和死亡原因，并讨论了诊断性基因检测的管理及重要性，因为明确诊断对于长期管理和向父母提供咨询至关重要。
