The association of Buschke-Ollendorf syndrome and nail-patella syndrome

被引：10

作者：

Drouin, CA ^{[1
]}

Grenon, H ^{[1
]}

机构：

[1] Ctr Hosp Grand Portage, Riviere Du Loup, PQ G5R 2A4, Canada

来源：

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY | 2002年 / 46卷 / 04期

关键词：

D O I：

10.1067/mjd.2002.120614

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Buschke-Ollendorf syndrome and nail-patella syndrome are both rare connective tissue disorders inherited in an autosomal dominant pattern and characterized by cutaneous and bone lesions. We describe a 3-year-old boy and his family who showed clinical features of both Buschke-Ollendorf syndrome and nail-patella syndrome. To our knowledge, this association has not been reported previously, suggesting that these two connective tissue disorders may share the same gene location with different Mutations or involve different mutated genes that share downstream segments of their signaling pathways. Furthermore, this young patient is also affected by a chronic idiopathic neutropenia usually not observed in Buschke-Ollendorf syndrome or nail-patella syndrome.

引用

页码：621 / 625

页数：5

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