The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.

Abstract excerpt

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects) is a rare X-linked dominant ichthyotic disorder. CHILD syndrome results from loss of function mutations in the NSDHL gene, which leads to inhibition of cholesterol synthesis and accumulation of toxic metabolic intermediates in affected tissues. The CHILD syndrome skin is characterized by plaques topped by waxy scales and a...

Topics

• 3-Hydroxysteroid Dehydrogenases
• Abnormalities, Multiple
• Cholesterol
• Female
• Genetic Diseases, X-Linked
• Humans
• Ichthyosiform Erythroderma, Congenital
• Limb Deformities, Congenital
• Male
• Mutation