{Reference Type}: Journal Article
{Title}: Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A.
{Author}: Suphatsathienkul P;Sakpichaisakul K;Wechapinan T;Trachoo O;Virawan S;Wanitphakdeedecha R;
{Journal}: Dermatol Ther (Heidelb)
{Volume}: 14
{Issue}: 2
{Year}: 2024 Feb 28
暂无{DOI}: 10.1007/s13555-023-01088-7
{Abstract}: Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by typical facial dysmorphism, generalized muscle stiffness, joint contracture, and skeletal abnormalities. This condition is caused by mutations in the heparan sulfate proteoglycan 2 (HSPG2) gene, which encodes perlecan, a component of the basement membrane. The management of patients with SJS primarily aims to alleviate symptoms related to muscle stiffness. In this report, we describe a male patient with SJS type 1A. Trio whole-exome sequencing identified a pathogenic mutation (NM_001291860.1: c.10897C>T; p.Arg3633Ter) and variants of unknown significance (NM_001291860.2: c.413+10G>T). The patient experienced difficulty in opening his eyes and mouth, which significantly limited his daily activities. Botulinum toxin A injection was administered and demonstrated significant clinical improvement after the treatment.