Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A
Issued Date
2024-01-01
Resource Type
ISSN
21938210
eISSN
21909172
Scopus ID
2-s2.0-85183431884
Journal Title
Dermatology and Therapy
Rights Holder(s)
SCOPUS
Bibliographic Citation
Dermatology and Therapy (2024)
Suggested Citation
Suphatsathienkul P., Sakpichaisakul K., Wechapinan T., Trachoo O., Virawan S., Wanitphakdeedecha R. Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A. Dermatology and Therapy (2024). doi:10.1007/s13555-023-01088-7 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/95831
Title
Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A
Corresponding Author(s)
Other Contributor(s)
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.