A case of Incontinentia Pigmenti associated with congenital absence of portal vein system and nodular regenerative hyperplasia

Congenital absence of portal vein system (CAPVS) is a rare condition in which portal perfusion is bypassed by portosystemic shunt leading to the development of portal hypertension (PH) or porto‐systemic encephalopathy (PSE). Visceral anomalies and liver cancer can be associated with CAPVS1.Thanks to the advances in imaging, the number of CAPVS cases detected has increased. Incontinentia Pigmenti (IP) (OMIM #308300) also represents a rare condition, characterized by skin, teeth, hair, nails, eyes and central nervous system alterations, due to mutations of NEMO/IKBKG gene. We report on the first case of IP associated with CAPVS and nodular regenerative hyperplasia (NRH) of the liver, in a patient with facial dysmorphisms and speech delay. Although rare, this finding may support the role of NEMO in liver homeostasis.