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

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.

Keywords: CHILD Syndrome; Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome; case report; simvastatin ointment.

Figure 1

Synthetic Pathways and Key Enzymes for Cholesterol Synthesis. Highlighted in the blue box is the affected gene responsible for manifestations of CHILD syndrome. Image lifted from Fitzpatrick, 9^th edition.

Figure 2

Targets of Pathogenesis-based Treatment in CHILD Syndrome. Simplified presentation of the pathophysiology of CHILD syndrome and how each is addressed by proposed treatment strategies with topical cholesterol and HMG-CoA reductase inhibitors.

Figure 3

Photos taken baseline and at Week 16 of treatment. Noted decrease in erythema, thick verrucous yellowish plaques with areas of excoriations and scaling (A-G).

Figure 4

Photos taken after one month of treatment, sent via teleconsultation. Noted further decrease in erythema, thickness of verrucous plaques and scaling. Patient reports controlled pruritus.