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新生儿和婴儿的严重先天性全身性剥脱性红皮病:Netherton综合征的一种可能迹象。

Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome.

作者信息

Hausser I, Anton-Lamprecht I

机构信息

Department of Dermatology, University of Heidelberg, Germany.

出版信息

Pediatr Dermatol. 1996 May-Jun;13(3):183-99. doi: 10.1111/j.1525-1470.1996.tb01202.x.

Abstract

We examined skin biopsy specimens from 17 of 19 newborns or infants with generalized ichthyosiform, exfoliative, seborrheic, or psoriasiform erythroderma. The specimens showed similar characteristic but nonspecific and therefore, at first sight, uninformative histologic features. Morphologically, the skin was affected overall with a persistent outbreak of eczema-like eruptions of subacute or chronic dermatitis. Pronounced dermal inflammatory processes were obvious by their perivascular and interstitial presence as well as exocytosis of lymphocytes, macrophages, and neutrophils. Epidermal barrier function was Impaired by the highly suppressed terminal differentiation, with thin or in part completely absent stratum corneum, decrease of keratin filaments, decrease or lack of keratohyalin granules, and of keratinosomes containing stacks of lipid membranes. As a result, the formation and discharge of epidermal barrier lipids from the keratinosomes that normally provide intercellular lamellar sheets at the granular-horny layer interface contributing to the epidermal barrier, was highly disturbed. The concomitant loss of water, electrolytes, and proteins by fluid exudation caused the patients severe metabolic problems and recurrent infections. The suspicion of Netherton syndrome was eventually confirmed in 18 patients by light microscopic demonstration of bamboo hairs (trichorrhexis invaginata), mostly from the scalp, but also in vellus hairs and eyelashes. Atopy actually belongs to the symptom triad defining Netherton syndrome and is, in our opinion, primarily responsible for the pathologic events within the skin and of the keratinizing parts of the growing hair shafts. Differential expression of the atopic condition determines the appearance of the keratinization disorder of the skin, namely, severe, generalized, exfoliative erythroderma or milder forms of ichthyosis linearis circumflexa Comèl. Retinold treatment seems to be contraindicated in these conditions since their biopharmacologic effects involve suppression of terminal differentiation, which is the proper pathognomonic event. In six patients the condition had a fatal course within months because of hypernatremia, recurrent infections, failure to thrive, and sepsis. Our aim is to call attention to and reaffirm that in congenital or early infantile cases of generalized exfoliative erythroderma. Netherton syndrome should be suspected as the underlying disease.

摘要

我们检查了19例患有全身性鱼鳞病样、剥脱性、脂溢性或银屑病样红皮病的新生儿或婴儿中的17例的皮肤活检标本。这些标本显示出相似的特征,但不具有特异性,因此乍一看,组织学特征并无太多信息价值。从形态学上看,皮肤整体受到影响,出现持续的亚急性或慢性皮炎样湿疹爆发。明显的真皮炎症过程通过血管周围和间质存在以及淋巴细胞、巨噬细胞和中性粒细胞的外渗而显现。表皮屏障功能因终末分化高度受抑制而受损,角质层变薄或部分完全缺失,角蛋白丝减少,透明角质颗粒减少或缺乏,以及含有脂质膜堆叠的角质小体减少或缺乏。结果,通常在颗粒层 - 角质层界面提供细胞间层状片层从而有助于表皮屏障的角质小体中表皮屏障脂质的形成和释放受到严重干扰。液体渗出导致的水、电解质和蛋白质的伴随丧失给患者带来严重的代谢问题和反复感染。最终,18例患者通过光学显微镜下显示竹节发(套叠性脆发症)得以确诊为Netherton综合征,竹节发大多来自头皮,但也见于毳毛和睫毛。特应性实际上属于定义Netherton综合征的症状三联征之一,并且在我们看来,它主要负责皮肤内以及生长中的毛干角质化部分的病理事件。特应性状况的差异表达决定了皮肤角质化障碍的表现,即严重的全身性剥脱性红皮病或较轻形式的迂回线状鱼鳞病Comèl。在这些情况下,维甲酸治疗似乎是禁忌的,因为其生物药理作用涉及抑制终末分化,而这正是特有的病理标志性事件。6例患者在数月内由于高钠血症、反复感染、生长发育不良和败血症而病情发展至致命。我们的目的是提醒并再次强调,在先天性或早期婴儿全身性剥脱性红皮病病例中,应怀疑Netherton综合征为潜在疾病。

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