Fatima Saba, Rafiq Ali, Majid Zain
Department of Pediatrics, Civil Hospital Karachi, Karachi, Pakistan, 74200.
Department of Dermatology, Civil Hospital Karachi, Karachi, Pakistan, 74200.
J Trop Pediatr. 2015 Apr;61(2):143-5. doi: 10.1093/tropej/fmu072. Epub 2014 Dec 24.
Harlequin ichthyosis is characterized by thickening of the layer of the skin which contains keratin. Eczema is a chronic relapsing skin disorder which is also associated with disrupted epidermal barrier. We report the case of a 6-hour-old male patient who was brought to the neonatal intensive care unit of our hospital with crusting skin lesions all over the body, presence of a severe ectropion and deranged electrolytes. A diagnosis of harlequin ichthyosis was made, and the neonate was managed accordingly. However, the infant eventually expired on the seventh day of life. The infant's father was a patient of eczema with a chronic relapsing course and was on oral steroid therapy. As per our knowledge, this is the first reported case of an infant with harlequin ichthyosis born to a father suffering from eczema. The similarities in the pathogenesis of the two diseases and the genetic mutation of filaggrin might suggest an association between the two conditions. Harlequin ichthyosis can hence be looked out for in infants born of parents with eczema.
丑角样鱼鳞病的特征是含有角蛋白的皮肤层增厚。湿疹是一种慢性复发性皮肤疾病,也与表皮屏障破坏有关。我们报告了一例6小时大的男性患者,该患者被送至我院新生儿重症监护病房,全身有结痂性皮肤病变,存在严重的睑外翻和电解质紊乱。诊断为丑角样鱼鳞病,并对新生儿进行了相应治疗。然而,该婴儿最终在出生后第七天死亡。婴儿的父亲是一名患有慢性复发性湿疹的患者,正在接受口服类固醇治疗。据我们所知,这是首例父亲患有湿疹的丑角样鱼鳞病婴儿的报道病例。两种疾病发病机制的相似性以及丝聚合蛋白的基因突变可能表明这两种情况之间存在关联。因此,对于父母患有湿疹的婴儿,应留意是否患有丑角样鱼鳞病。