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

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.

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Publication Details

Journal
Acta Medica Philippina
Published
2024-09-30
DOI
https://doi.org/10.47895/amp.v58i17.9202
Citations
1
Primary Topic
Autoimmune Bullous Skin Diseases
Type
article
Field-Weighted Citation Impact
0.42
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article

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

Carmela Augusta F Dayrit-Castro, Dan David, K. Arnold Chan
1 citations
Acta Medica Philippina
Autoimmune Bullous Skin Diseases
0.42
article

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

Carmela Augusta F Dayrit-Castro, Dan David, K. Arnold Chan
article en
1 citations

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.

Acta Medica PhilippinaVol. 58(17)
Philippine General Hospital (PH), University of the Philippines Manila (PH), De La Salle University – Dasmariñas (PH)
Openalex Percentile: Top 35%
Autoimmune Bullous Skin Diseases
0.42
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