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布施克-奥伦多夫综合征与双侧皮肤并指畸形。

Buschke-Ollendorff syndrome and bilateral cutaneous syndactyly.

作者信息

Fernández-Faith Esteban, Kress Douglas, Piliang Melissa, Sachdeva Mandi, Vidimos Allison

机构信息

Dermatology Department, Cleveland Clinic, Cleveland, Ohio, USA.

出版信息

Pediatr Dermatol. 2012 Sep-Oct;29(5):661-2. doi: 10.1111/j.1525-1470.2011.01417.x. Epub 2011 Dec 9.

Abstract

A 3-year-old boy presented with asymptomatic elastomas on the posterior trunk. Radiographic studies revealed osteopoikilosis, confirming the diagnosis of Buschke-Ollendorff syndrome. The patient had a history of bilateral simple cutaneous syndactyly, which has not been previously reported with this condition. Buschke-Ollendorff syndrome is a rare autosomal-dominant disorder characterized by connective tissue nevi and osteopoikilosis. Several associated systemic abnormalities have been reported, but morbidity and mortality are generally not affected.

摘要

一名3岁男孩后躯干出现无症状弹性瘤。影像学检查显示骨斑点症,确诊为布希克-奥伦多夫综合征。该患者有双侧单纯性皮肤并指畸形病史,此前未见与该病相关的报道。布希克-奥伦多夫综合征是一种罕见的常染色体显性疾病,其特征为结缔组织痣和骨斑点症。已有数种相关的全身异常情况被报道,但一般不影响发病率和死亡率。

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