The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases.
The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases.
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瑞典先天性鱼鳞病的临床谱：127 例病例回顾。
DOI：
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发表时间：
2003
期刊：
影响因子：
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通讯作者：
P. Westermark
中科院分区：
文献类型：
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作者：
A. Vahlquist;A. Gånemo;M. Pigg;M. Virtanen;P. Westermark
先天性鱼鳞病是一组罕见的单基因疾病，在出生时表现为火棉胶表型或不同程度的鱼鳞病样红皮病，伴或不伴浅表水疱。取决于哪种基因突变导致疾病，以后生活中的皮肤问题可能从严重的板层或大疱性鱼鳞病到轻度或仅局部表达的角化过度病变。在婴儿期就做出正确的诊断显然是重要的，但有时也是极其困难的。幸运的是，最近我们对鱼鳞病分子遗传学的理解取得了进展，导致了几种新的诊断工具不断更新。基于这一发展，并根据我们自己5年的经验，在国家遗传性皮肤病中心，我们描述了127例先天性鱼鳞病检查在儿童或成年。应用表型和基因型标准相结合，患者分为三个主要组：1）大疱性鱼鳞病2）主要由于转氨酶1突变引起的非大疱性鱼鳞病样红皮病和板层鱼鳞病（n = 80）; 3）综合征性鱼鳞病，即由于许多不同原因引起的全身（多器官）疾病（n = 26）。每个组可以进一步分层成4-11个实体使用突变分析，表皮的电子显微镜和各种其他技术。我们的研究结果进行了讨论，在最近的文献中强调鱼鳞病的各种诊断程序的临床实用性的数据。
Congenital ichthyosis comprises a rare group of usually monogenetic diseases that present at birth as a collodion phenotype or as variable degrees of ichtHyosiform erythroderma, with or without superficial blisters. Depending on which gene mutation causes the disease, the skin problems later in life may range from a severe lamellar or bullous ichthyosis to mild or only focally expressed hyperkeratotic lesions. It is obviously important, but sometimes painstakingly difficult, to make a correct diagnosis already in infancy. Fortunately, recent advances in our understanding of the molecular genetics of ichthyosis have led to several new diagnostic tools that are continuously being updated. Based on this development, and on our own 5 years of experience in a national genodermatosis centre, we describe 127 cases of congenital ichthyosis examined in childhood or adulthood. Applying a combination of phenotypic and genotypic criteria, the patients were classified into three main groups: 1) Bullous ichthyosis (epidermolytic hyperkeratosis) and related disorders due to keratin mutations (n = 21); 2) Non-bullous ichthyosiform erythroderma and lamellar ichthyosis mainly due to transglutaminase 1 mutations (n = 80); 3) Syndromic ichthyosis, i.e. systemic (multi-organ) diseases due to many different causes (n = 26). Each group could be further stratified into 4-11 entities using mutation analysis, electron microscopy of epidermis and various other techniques. Our findings are discussed in relation to recent data in the literature emphasizing the clinical usefulness of various diagnostic procedures for ichthyosis.