A severe ABCC6-induced generalized arterial calcification of infancy overshadowed by the EGFR-associated neonatal inflammatory skin and bowel disease 2 in a Roma girl.

Neonatal inflammatory skin and bowel disease 2 is an epidermal growth factor receptor (EGFR)-associated autosomal recessive early-infantile disease with inflammatory skin, alopecia, progeroid features, electrolyte imbalance, recurrent infections, and premature death. Pseudoxanthoma elasticum (PXE) is another autosomal recessive skin disorder with some ocular and cardiovascular alterations, caused by variations in the ATP binding cassette subfamily c member 6 (ABCC6) gene. However, ABCC6-deficiency is, rarely, also presented as as an early/late-infantile autosomal recessive generalized arterial calcification of infancy.