Bilateral Involvement in CHILD Syndrome Successfully Treated With Cholesterol–Lovastatin Combination

ZEYREK M., Balan K., ERSOY EVANS S.

Pediatric Dermatology, 2026 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2026
  • Doi Numarası: 10.1111/pde.70247
  • Dergi Adı: Pediatric Dermatology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Anahtar Kelimeler: CHILD syndrome, cholesterol, human, ichthyosis, lovastatin, NSDHL protein
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.