5% Simvastatin Ointment as Treatment for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD) Syndrome in a 4-year-old Female: A Case Report.
CHILD Syndrome
Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome
case report
simvastatin ointment
Journal
Acta medica Philippina
ISSN: 2094-9278
Titre abrégé: Acta Med Philipp
Pays: Philippines
ID NLM: 0312677
Informations de publication
Date de publication:
2024
2024
Historique:
medline:
21
10
2024
pubmed:
21
10
2024
entrez:
21
10
2024
Statut:
epublish
Résumé
A 4-year-old female with Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome, with a pathogenic variant of the NSDHL gene, c.130G>A (p.Gly44Ser), and unilateral right-sided erythematous verrucous plaques with scaling and ipsilateral limb defects, was started on 5% simvastatin ointment. It was applied twice daily for four months, with improvement already seen starting week 2. Monotherapy with 5% simvastatin ointment was able to decrease the thickness of the verrucous plaques seen in our patient, highlighting that the accumulation of toxic metabolites may play a more crucial role in its disease pathogenesis.
Identifiants
pubmed: 39431262
doi: 10.47895/amp.v58i17.9202
pii: AMP-58-17-9202
pmc: PMC11484598
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Pagination
94-99Informations de copyright
© 2024 Acta Medica Philippina.
Déclaration de conflit d'intérêts
All authors declared no conflicts of interest.