We report the case of a female term neonate admitted for congenital skin anomalies to a Neonatology Department a few hours after birth. Pregnancy and vaginal delivery were uneventful. On physical examination, she had extensive homogeneous erythematous patches involving her face, the upper left side of the chest, left shoulder, left arm, and most of the surface of her right leg and knee. Moreover, she had reddish marble-like reticulated patches on the back and blue spots partly mixed with them. An ocular examination showed buphthalmos of her right eye. Echocardiogram revealed a structurally normal heart with good contractility. Blood tests, abdominal and cranial ultrasound were normal, and no other abnormalities were found.
- What kind of skin lesions do you recognize?
- What is your diagnosis?
- Which further investigations would you suggest?