New features of aplasia cutis congenita type 5 – Skin atrophy associated with respiratory insufficiency and multiple intestinal atresia caused by the early death of twin fetus

摘要

A 1-day-old female infant was transferred to our NICU witha diagnosis of a congenital skin defect. She was born from atwin pregnancy complicated with intrauterine twin death inweek 12 of pregnancy. Two previous pregnancies had endedearly in spontaneous miscarriages. The infant presentedhypersensitivity to stimuli, symmetrical skin defectscovering 30% of the body, most widely distributed in abutterfly/H-pattern on the trunk, with thigh and elbowmarks, and a single horizontal lesion underneath the claviclesand upon the sagittal suture. There was no associationwith Blaschko’s lines nor with dermatomes. The chestrestrictinglesions caused mild respiratory insufficiency; aCT scan revealed congenital emphysematous lung lesions.Due to aggravated ileus signs, a laparotomy was performedthat revealed multiple small bowel atresia (type I, IV). Skinlesions were managed conservatively and healed properly.The neurologic examination and an EEG test showed noabnormalities, and the patient was discharged home after40 days.