Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A

Panittra Suphatsathienkul; Kullasate Sakpichaisakul; Thanin Wechapinan; Objoon Trachoo; Sorawit Virawan; Rungsima Wanitphakdeedecha

doi:10.1007/s13555-023-01088-7

Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A

Dermatol Ther (Heidelb). 2024 Feb;14(2):545-556. doi: 10.1007/s13555-023-01088-7. Epub 2024 Jan 28.

Authors

Panittra Suphatsathienkul¹, Kullasate Sakpichaisakul^{2

3}, Thanin Wechapinan^{2

4}, Objoon Trachoo^{5

6}, Sorawit Virawan⁷, Rungsima Wanitphakdeedecha⁸

Affiliations

¹ Department of Dermatology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
² Division of Neurology, Department of Pediatrics, Ministry of Public Health, Queen Sirikit National Institute of Child Health, Bangkok, Thailand.
³ College of Medicine, Rangsit University, Bangkok, Thailand.
⁴ Ministry of Public Health, Neurological Institute of Thailand, Bangkok, Thailand.
⁵ Centre for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
⁶ Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
⁷ Division of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
⁸ Department of Dermatology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. rungsima.wan@mahidol.ac.th.

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.

Keywords: Blepharophimosis; Botulinum toxin; HSPG2; Myotonia; Schwartz-Jampel syndrome.