Cury V F, Gomez R S, Costa J E, Friedman E, Boson W, De Marco L
Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Br J Dermatol. 2005 Feb;152(2):353-6. doi: 10.1111/j.1365-2133.2004.06278.x.
Haim-Munk syndrome (HMS) is a rare autosomal recessive disorder characterized clinically by abnormal palmoplantar hyperkeratosis and destruction of the periodontium, with hallmarks of onychogryphosis and arachnodactyly. Germline mutations in the lysosomal protease cathepsin C gene (CTSC) have been described in a single patient with HMS and in several individuals with the clinically related disorder Papillon-Lefevre syndrome (PLS). We describe a patient with HMS. We have analysed the cathepsin C gene in the proband and her mother. Sequence analysis of CTSC in the proband revealed a homozygous mutation at codon 196 (587T-->C) within exon 4 that altered the conserved leucine to proline (Leu196Pro), whereas the patient's mother was heterozygous for that mutation. The same mutation has previously been described in an unrelated Brazilian family with PLS. An identical single missense mutation in the cathepsin C gene may underlie both PLS and HMS. These findings confirm that HMS and PLS are allelic variants of cathepsin C gene mutations and suggest that other factors (environmental or genetic) may be important determinants of the clinical phenotype of HMS and PLS.
海姆-蒙克综合征（HMS）是一种罕见的常染色体隐性疾病，临床特征为掌跖角化异常和牙周组织破坏，伴有爪形趾和蜘蛛指。溶酶体蛋白酶组织蛋白酶C基因（CTSC）的种系突变已在一名HMS患者及几名患有临床相关疾病帕皮永-勒费弗尔综合征（PLS）的个体中被描述。我们报告了一名HMS患者。我们对先证者及其母亲的组织蛋白酶C基因进行了分析。先证者CTSC的序列分析显示，外显子4中第196密码子（587T→C）发生纯合突变，导致保守的亮氨酸变为脯氨酸（Leu196Pro），而患者母亲为该突变的杂合子。相同的突变先前在一个不相关的患有PLS的巴西家族中也有描述。组织蛋白酶C基因中相同的单一错义突变可能是PLS和HMS的共同病因。这些发现证实HMS和PLS是组织蛋白酶C基因突变的等位基因变体，并表明其他因素（环境或遗传）可能是HMS和PLS临床表型的重要决定因素。
