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.
Zeyrek et al. (Tue,) studied this question.