Bhedasgaonkar Sayali S, Nadkarni Snehal U
Department of Ophthalmology, BARC Hospital, Mumbai, India.
Saudi J Ophthalmol. 2020 Nov 22;34(1):59-61. doi: 10.4103/1319-4534.301289. eCollection 2020 Jan-Mar.
We present a rare case of Lamellar Ichthyosis with bilateral ectropion with left sided corneal ulcer with descemetocele in a four-month-old female child, the youngest ever reported. Ichthyosis is a group of skin disorders characterized by the presence of fish-like scales all over the body (Mushriff, 2016; Turgut ., 2009). Lamellar Ichthyosis is a rare congenital condition with incidence of 1 in 100,000 (Conditions), affecting males and females equally. Inheritance is Autosomal Recessive (Conditions). It involves generalized body as a collodion baby at birth; once the membrane sheds, patient develops large, thick, brown, pasted scales associated with ectropion, eclabium, scarring alopecia, plantar and palmar hyperkeratosis (Mushriff, 2016). Mild cases are managed with hydration, lubrication and keratolytic-agents (Mushriff, 2016). Severe cases are treated with Oral Retinoid. Proper lubrication and patching of eyes with timely management of ectropion to prevent the exposure keraopathy and related complications are needed in such cases. Secondary infections can lead to vision threatening complications, so child with ichthyosis should be under Ophthalmic observation for early needed interventions.
我们报告了一例罕见的板层状鱼鳞病病例,患儿为一名4个月大的女婴,双侧睑外翻,左侧角膜溃疡并伴有后弹力层膨出,这是有记录以来年龄最小的病例。鱼鳞病是一组以全身出现鱼状鳞屑为特征的皮肤疾病(Mushriff,2016;Turgut等,2009)。板层状鱼鳞病是一种罕见的先天性疾病,发病率为十万分之一(疾病),男女发病率相同。其遗传方式为常染色体隐性遗传(疾病)。患儿出生时表现为覆盖全身的胶样婴儿;一旦膜状物脱落,患者会出现大片、厚实、棕色的粘贴状鳞屑,并伴有睑外翻、唇外翻、瘢痕性脱发、掌跖角化过度(Mushriff,2016)。轻症病例通过保湿、润滑和角质溶解剂进行治疗(Mushriff,2016)。重症病例采用口服维甲酸治疗。在此类病例中,需要进行适当的眼部润滑和眼部包扎,并及时处理睑外翻,以预防暴露性角膜病变及相关并发症。继发感染可导致威胁视力的并发症,因此鱼鳞病患儿应接受眼科观察,以便尽早进行必要的干预。