可变性红斑角皮症的常染色体隐性遗传

Autosomal recessive inheritance of erythrokeratoderma variabilis.

作者信息

Armstrong D K, Hutchinson T H, Walsh M Y, McMillan J C

机构信息

Department of Dermatology, Belfast City Hospital, Northern Ireland.

出版信息

Pediatr Dermatol. 1997 Sep-Oct;14(5):355-8. doi: 10.1111/j.1525-1470.1997.tb00980.x.

DOI:10.1111/j.1525-1470.1997.tb00980.x

PMID:9336804

Abstract

Erythrokeratoderma variabilis is a rare genodermatosis conventionally regarded as autosomal dominant in inheritance. We describe the clinical features and light and electron microscopic findings in two affected siblings born to unaffected parents and suggest an autosomal recessive mode of inheritance in this family. We also briefly review the literature on this disorder.

摘要

可变性红斑角化病是一种罕见的遗传性皮肤病，传统上认为其遗传方式为常染色体显性遗传。我们描述了一对父母正常的患病兄妹的临床特征、光镜和电镜检查结果，并提出该家族的遗传方式为常染色体隐性遗传。我们还简要回顾了关于这种疾病的文献。