Iron Deficient Toxic Milk Leads to the Mask Phenotype in Hephaestin Knockout Mice

The study investigated the effects of iron deficiency in hephaestin knockout (Hp KO) mice, focusing on a "mask" hair loss phenotype observed in neonates. Hephaestin is crucial for intestinal iron transport, and its absence led to intracellular iron accumulation in the intestine. Pups born to Hp KO mothers exhibited truncal hair loss, which resolved after weaning. This phenotype was also seen in wild-type pups nursed by Hp KO dams, indicating that maternal intestinal Hp deficiency and resulting low iron levels in milk were responsible. Histological analysis showed follicular abnormalities in affected pups. The study highlighted the role of iron in hair growth and the potential impact of maternal iron deficiency on offspring.