Bilateral Involvement in CHILD Syndrome Successfully Treated With Cholesterol–Lovastatin Combination
Pediatric Dermatology, 2026 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Publication Date: 2026
- Doi Number: 10.1111/pde.70247
- Journal Name: Pediatric Dermatology
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
- Keywords: CHILD syndrome, cholesterol, human, ichthyosis, lovastatin, NSDHL protein
- Hacettepe University Affiliated: Yes
Abstract
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder that primarily affects the skin and skeletal system but can also involve multiple organ systems. The disease usually presents with unilateral dermatological and skeletal abnormalities; however, rarely might bilateral involvement occur. This condition is associated with mutations in the NSDHL gene, which affects cholesterol biosynthesis. Herein, we report a 7-year-old female with bilateral involvement and a novel c.449 T>C (p.Phe150Ser) mutation in the NSDHL gene whose lesions cleared completely with topical cholesterol–lovastatin cream.