A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome.
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome.
复制标题
一种新的常染色体显性遗传病，包括化脓性无菌性关节炎、坏疽性脓皮病和痤疮：PAPA 综合征。
DOI：
10.4065/72.7.611
复制
发表时间：
1997
影响因子：
8.9
通讯作者：
M. McEvoy
中科院分区：
文献类型：
--
作者：
N. Lindor;T. M. Arsenault;H. Solomon;C. Seidman;M. McEvoy
目的
描述一个常染色体显性遗传疾病的多代遗传家族，其特征为化脓性关节炎、坏疽性化脓性坏疽和严重的囊性痤疮。
材料和方法
我们提出了一个详细的病例报告，一个39岁的男子与关节炎的变化，在几个关节，脓坏疽，囊性痤疮。他家族三代的几位亲属接受了临床和遗传调查。本文报道了这一家系的研究结果。
结果
三代中的10名受影响的家族成员表现出少关节、非轴性、破坏性、皮质类固醇反应性关节炎的可变表达，该关节炎始于儿童期;坏疽性脓疡;以及青春期及以后的严重囊性痤疮。其他不太常见的相关特征包括成人发病的胰岛素依赖型糖尿病、蛋白尿、肠外注射部位脓肿形成和磺胺类药物引起的血细胞减少。实验室评价为非诊断性。遗传学研究排除了与主要组织相容性位点的连锁。
结论
PAPA综合征（化脓性无菌性关节炎、坏疽性化脓性坏疽和痤疮）的首字母缩写被认为是这种新发现的多效性常染色体显性遗传病。PAPA综合征中遗传改变的性质尚不清楚。
OBJECTIVE
To describe a multigenerational family with transmission of an autosomal dominant disorder characterized by pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne.
MATERIAL AND METHODS
We present a detailed case report of a 39-year-old man with arthritic changes in several joints, pyoderma gangrenosum, and cystic acne. Several relatives from three generations of his family underwent clinical and genetic investigations. The findings in this kindred are reported.
RESULTS
Ten affected family members in three generations manifested variable expression of a pauciarticular, nonaxial, destructive, corticosteroid-responsive arthritis that began in childhood; pyoderma gangrenosum; and severe cystic acne in adolescence and beyond. Other less commonly associated features included adult-onset insulin-dependent diabetes mellitus, proteinuria, abscess formation at the site of parenteral injections, and cytopenias attributable to sulfonamide medications. Laboratory evaluation was nondiagnostic. Genetic studies excluded linkage to the major histocompatibility locus.
CONCLUSION
The acronym of PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) is suggested for this newly recognized pleiotropic autosomal dominant disorder. The nature of the genetic alteration in PAPA syndrome is unknown.