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汉族家族性瘢痕疙瘩的发病特征。

Characteristics of occurrence for Han Chinese familial keloids.

作者信息

Chen Yang, Gao Jian-Hua, Liu Xiao-Jun, Yan Xin, Song Mei

机构信息

Department of Plastic Surgery, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, PR China.

出版信息

Burns. 2006 Dec;32(8):1052-9. doi: 10.1016/j.burns.2006.04.014. Epub 2006 Oct 10.

Abstract

AIM

To elucidate the characteristics of occurrence for Han Chinese familial keloids.

METHOD

To find out their common characteristics of occurrence by studying the clinical and genetic information of six Han Chinese pedigrees with familial keloids with all the family members having no recorded marriage history to other races except Han people.

RESULT

Most of these familial keloids occur spontaneously during puberty, often displaying symmetrically at chest, back and shoulder with respective specific shapes, presenting with variable clinical expression and incomplete clinical penetrance and showing the characteristics of an autosomal dominant mode of inheritance with reduced penetrance.

CONCLUSION

These Han Chinese familial keloids present with many similar characteristics of occurrence differing from those of sporadic cases. The pattern of inheritance observed in these Han Chinese pedigrees with familial keloids is consistent with an autosomal dominant mode with incomplete clinical penetrance and variable expression.

摘要

目的

阐明汉族人家族性瘢痕疙瘩的发生特点。

方法

通过研究六个汉族人家族性瘢痕疙瘩家系的临床和遗传信息,找出其共同的发生特点,所有家庭成员除汉族外无与其他种族通婚史。

结果

这些家族性瘢痕疙瘩大多在青春期自发出现,常对称发生于胸部、背部和肩部,具有各自特定的形状,临床表现多样且临床外显率不完全,呈现出常染色体显性遗传模式且外显率降低的特点。

结论

这些汉族人家族性瘢痕疙瘩具有许多与散发性病例不同的相似发生特点。在这些汉族人家族性瘢痕疙瘩家系中观察到的遗传模式与常染色体显性遗传模式一致,临床外显率不完全且表现多样。

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