Cutis laxa (generalized elastolysis). A report of four cases with autopsy findings.
Four children with cutis laxa (generalized elastolysis) are reported. The first three cases were siblings from a Canadian Indian family and the fourth case was the only affected child in an American Black family. Loose and sagging skin folded over the face, neck and trunk, gave a premature senile appearance. Post-mortem examination was performed on the first three cases. The most common and serious visceral involvement was development of pulmonary emphysema. This was present in two autopsied cases and was demonstrated by chest X-ray in the fourth case. Other abnormalities included large inguinal and perineal hernia, rectal diverticulum and multiple diverticulae of the urinary bladder.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D001013:Aorta, Thoracic / Q000473:pathology; D002648:Child; D003483:Cutis Laxa / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008168:Lung / Q000473:pathology; D008297:Male; D011656:Pulmonary Emphysema / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D011859:Radiography; D012867:Skin / Q000473:pathology*