Piebaldism with a variant gene

ABSTRACT

Piebaldism is patchy areas of depigmentation on the skin, most frequently on the forehead [producing a white forelock], ventral trunk, elbows, and knees. It is a rare autosomal dominant condition, caused by mutations in the cell-surface receptor tyrosine kinase gene [KIT]. Piebaldism must be differentiated from other pigmentation disorders, such as vitiligo, nevus depigmentosus, and Waardenburg syndrome. We present a preterm baby boy born at 32+ weeks due to antepartum hemorrhage. The birth weight was 1.85 kg. The baby was found to have a white forelock [Piebaldism] and gray eyebrows and eyelashes. His neonatal course was complicated by mild respiratory distress syndrome which was managed by one-day intubation and assisted ventilation [on PTV mode]. The gene panel revealed that the baby carries in exon 16 of KIT the variant of uncertain significance c.2318C>T p.[Ser773Phe] in heterozygous state