TEMPORARY REMOVAL: Not lost to follow-up: A rare case of CHILD syndrome in a boy reappears

This is the authors' abstract. We don't add key points for this paper.

Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is an exceedingly rare, X-linked dominant genetic disorder of lipid metabolism that arises from mutations in NAD(P) dependent steroid dehydrogenase-like gene (NSDHL), which encodes 3β-hydroxysteroid-dehydrogenase, an enzyme essential to cholesterol synthesis. Cholesterol plays a crucial role in hedgehog signaling during normal mammalian development, thus explaining the striking right-to-left unilateralism of both cutaneous and visceral manifestations typified by this condition.