Retrospective diagnosis of Kindler syndrome in a 37‐year‐old man
Retrospective diagnosis of Kindler syndrome in a 37‐year‐old man
复制标题
一名 37 岁男性金德勒综合征的回顾性诊断
DOI：
10.1111/j.1365-2230.2005.01930.x
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发表时间：
2006
影响因子：
4.1
通讯作者：
C. Moss
中科院分区：
文献类型：
--
作者：
M. Thomson;G. Ashton;J. Mcgrath;R. Eady;C. Moss
金德勒综合征是一种罕见的常染色体隐性遗传病，其特征是婴幼儿和儿童早期出现肢端水泡，随后出现光敏、进行性皮肤白斑和皮肤萎缩。其他特征包括脚趾和手指呈带状，掌足角过度角化，牙龈脆弱，牙列不良，粘膜受累，表现为尿路、肛门和食道狭窄。最近在Kindler综合征中发现的KIND1突变有助于早期诊断、预防措施和更准确地定义表型。在这里描述的家庭中，一个患有肢端水泡的婴儿的金德勒综合征的分子诊断导致了一个严重患病的亲属的迟来的诊断，该亲属的病情已经持续了37 年。
Kindler syndrome is a rare autosomal recessive disorder characterized by acral blisters in infancy and early childhood, followed by photosensitivity, progressive poikiloderma and cutaneous atrophy. Other features include webbing of the toes and fingers, palmoplantar hyperkeratosis, gingival fragility, poor dentition, and mucosal involvement in the form of urethral, anal and oesophageal stenosis. The recent finding of KIND1 mutations in Kindler syndrome facilitates early diagnosis, prophylactic measures and more precise definition of the phenotype. In the family described here, molecular diagnosis of Kindler syndrome in an infant with acral blisters led to the belated diagnosis in a severely affected relative whose condition had remained unidentified for 37 years.
影响因子：
6.5
作者：
Ashton, GHS;McLean, WHI;McGrath, JA
通讯作者：
McGrath, JA