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Three cousins with chronic foot ulcers from late-onset hereditary sensory and autonomic neuropathies type 2 (HSAN2).

作者信息

Aghaei Shahin, Pakmanesh Kambiz

机构信息

Department of Dermatology, Jahrom Medical School, Jahrom, Iran.

出版信息

Dermatol Online J. 2006 Feb 28;12(2):5.

PMID:16638398
Abstract

The hereditary sensory and autonomic neuropathies (HSAN) are a group of rare disorders characterized by prominent sensory and autonomic neuropathy without motor involvement. We report three male cousins with chronic foot ulcers, all were affected with late-onset HSAN type 2 (HSAN2). In view of the history of consanguinity and male sex, X-linked recessive transmission was likely in our patients. According to the authors' knowledge this is the first report of HSAN2 from Iran.

摘要

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引用本文的文献

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Hereditary Sensory and Autonomic Neuropathy Type II in a Female Child with Multiple Orthopaedic Ailments: Diagnosis and Operative Management.一名患有多种骨科疾病的女童的II型遗传性感觉和自主神经病变：诊断与手术治疗
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2
A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree.WNK1/HSN2基因中的一种新型无义突变，与一个伊朗大家系中四名兄弟姐妹的感觉神经病变和肢体毁损相关。
BMC Neurol. 2018 Nov 29;18(1):195. doi: 10.1186/s12883-018-1201-6.