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.
- Author:
Denise Marie B. David
1
;
Koreen Blossom T. Chan
1
;
Carmela Augusta F. Dayrit-Castro
1
,
2
Author Information
- Publication Type:Case Reports
- Keywords: Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects Syndrome; Simvastatin Ointment; Case Report
- MeSH: Human; Female; Child Preschool: 2-5 Yrs Old; Child Syndrome; Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
- From: Acta Medica Philippina 2024;58(17):94-99
- CountryPhilippines
- Language:English
-
Abstract:
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.
- Full text:202411070917324736414.pdf