Department of Pathology and Centre of Immune Regulation, Oslo University Hospital-Rikshospitalet and University of Oslo, Oslo, Norway.
J Am Acad Dermatol. 2012 Apr;66(4):606-16. doi: 10.1016/j.jaad.2011.04.014. Epub 2011 Aug 19.
Ichthyosis prematurity syndrome (IPS) is classified as a syndromic congenital ichthyosis based on the presence of skin changes at birth, ultrastructural abnormalities in the epidermis, and extracutaneous manifestations. Recently, mutations in the fatty acid transporter protein 4 gene have been identified in patients with IPS.
We sought to perform a detailed clinical evaluation of patients with IPS identified in Norway.
Clinical examination and follow-up of all patients (n = 23) and light and electron microscopic examination of skin biopsy specimens were performed.
IPS was characterized prenatally by ultrasound findings of polyhydramnios, separation of membranes, echogenic amniotic fluid, and clear chorionic fluid. All patients were born prematurely with sometimes life-threatening neonatal asphyxia; this was likely caused by aspiration of corneocyte-containing amniotic fluid as postmortem examination of lung tissue in two patients revealed keratin debris filling the bronchial tree and alveoli. The skin appeared erythrodermic, swollen, and covered by a greasy, thick vernix caseosa-like "scale" at birth, and evolved rapidly to a mild chronic ichthyosis. Many patients subsequently had chronic, severe pruritus. Histopathologic and ultrastructural examination of skin biopsy specimens showed hyperkeratosis, acanthosis, dermal inflammation, and characteristic aggregates of curved lamellar structures in the upper epidermis. Peripheral blood eosinophilia was invariably present and most patients had increased serum immunoglobulin E levels. Over 70% of the patients had a history of respiratory allergy and/or food allergy.
The study included only 23 patients because of the rarity of the disease.
IPS is characterized by defined genetic mutations, typical ultrastructural skin abnormalities, and distinct prenatal and postnatal clinical features.
先天性鱼鱗狀表皮松解症（IPS）是一种综合征性先天性鱼鳞狀皮肤病，其特征为出生时皮肤改变、表皮超微结构异常和皮肤外表现。最近，IPS 患者的脂肪酸转运蛋白 4 基因突变已被鉴定。
我们旨在对挪威发现的 IPS 患者进行详细的临床评估。
对所有患者（n=23）进行临床检查和随访，并进行皮肤活检的光镜和电镜检查。
IPS 产前超声表现为羊水过多、胎膜早破、羊水回声增强和清亮胎羊水。所有患者均早产，新生儿有窒息，有时危及生命；这可能是由于吸入含角蛋白细胞的羊水所致，因为对两名患者的肺组织进行尸检时发现，角化细胞碎片充满了支气管树和肺泡。出生时皮肤呈红皮病样、肿胀，覆盖着油腻、厚的胎垢样“鳞屑”，迅速发展为轻度慢性鱼鳞狀皮肤病。许多患者随后出现慢性、严重瘙痒。皮肤活检的组织病理学和超微结构检查显示角化过度、棘皮症、真皮炎症和上表皮特征性弯曲板层结构聚集。外周血嗜酸性粒细胞始终存在，大多数患者血清免疫球蛋白 E 水平升高。超过 70%的患者有呼吸道过敏和/或食物过敏史。
由于疾病罕见，本研究仅纳入了 23 例患者。
IPS 的特征为明确的基因突变、典型的超微结构皮肤异常以及独特的产前和产后临床特征。
