Austin Smith Wallace, Cope Austin, Fernandez Martin, Parekh Palak
Scott & White Memorial Hospital and Clinic, Texas A&M University College of Medicine.
Dermatol Online J. 2016 Apr 18;22(4):13030/qt96w8m091.
Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder. Other manifestations include palmoplantar keratoderma (PPK). EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic variability is seen in affected individuals based on the genotypic mutation. We present a mother and her newborn son with EI and prominent PPK in the mother, which also developed in the child at a few months of age. Genotype analysis was performed on the newborn child who was found to harbor a mutation in the keratin 1 gene. This family demonstrates the phenotypic expression of PPK associated with keratin 1 gene mutations and illustrates the importance of genotype-phenotypecorrelation in this disorder.
表皮松解性鱼鳞病（EI）是一种罕见的常染色体显性遗传性皮肤病。尽管是一种遗传性疾病，但50%的病例代表新的突变。这种疾病在新生儿期表现为大疱性疾病，随后发展为终身性鱼鳞病样皮肤疾病。其他表现包括掌跖角化病（PPK）。EI是由角蛋白1和角蛋白10基因的突变引起的。基于基因型突变，受累个体存在表型变异性。我们报告了一位患有EI且有明显PPK的母亲及其新生儿儿子，该新生儿在几个月大时也出现了PPK。对新生儿进行了基因型分析，发现其角蛋白1基因存在突变。这个家系展示了与角蛋白1基因突变相关的PPK的表型表达，并说明了基因型 - 表型相关性在这种疾病中的重要性。
