Department of Dentistry, Kothiwal Dental College and Research Centre, Moradabad, India.
Indian J Dermatol Venereol Leprol. 2011 Mar-Apr;77(2):252. doi: 10.4103/0378-6323.77487.
Haim Munk Syndrome (HMS) is the allelic mutation of exon 6 codon in cathepsin C gene. Here, we present two cases of same family with HMS having all the cardinal features of HMS which includes palmo plantar keratoderma and periodontitis along with arachnodactyly, acroosteolysis, onychogryphosis, and marked osteopenia on hand wrist radiographs. Both the siblings were treated with cotrimoxazole, acetretin and topical keratolytics and followed up over a period of one year, showed remarkable improvement in palmo plantar keratoderma and periodontitis.
Haim Munk 综合征（HMS）是组织蛋白酶 C 基因突变所致，位于外显子 6 的密码子。本研究报道了两例同一家族的 HMS 患者，均具有 HMS 的所有主要特征，包括掌跖角化过度症和牙周炎，同时伴有蜘蛛指（趾）、指（趾）骨溶解、甲凹陷和手部腕关节 X 线片明显骨质疏松。两例同胞均接受复方磺胺甲噁唑、阿维 A 和局部角质松解剂治疗，随访 1 年，掌跖角化过度症和牙周炎均显著改善。
