Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A.
Blepharophimosis
Botulinum toxin
HSPG2
Myotonia
Schwartz-Jampel syndrome
Journal
Dermatology and therapy
ISSN: 2193-8210
Titre abrégé: Dermatol Ther (Heidelb)
Pays: Switzerland
ID NLM: 101590450
Informations de publication
Date de publication:
28 Jan 2024
28 Jan 2024
Historique:
received:
08
10
2023
accepted:
13
12
2023
medline:
29
1
2024
pubmed:
29
1
2024
entrez:
29
1
2024
Statut:
aheadofprint
Résumé
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.
Identifiants
pubmed: 38285320
doi: 10.1007/s13555-023-01088-7
pii: 10.1007/s13555-023-01088-7
doi:
Types de publication
Journal Article
Langues
eng
Informations de copyright
© 2024. The Author(s).
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