Mehregan A H, Lee S C, Nabai H
J Cutan Pathol. 1978 Jun;5(3):116-26. doi: 10.1111/j.1600-0560.1978.tb00948.x.
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.
报告了4例皮肤松弛症(全身性弹性组织离解)患儿。前三例为来自加拿大印第安家庭的兄弟姐妹,第四例是一个美国黑人家庭中唯一患病的孩子。面部、颈部和躯干上松弛下垂的皮肤折叠起来,呈现出早衰的面容。对前三例进行了尸检。最常见且严重的内脏受累情况是肺气肿的发生。两例尸检病例存在肺气肿,第四例通过胸部X线检查证实有肺气肿。其他异常包括大的腹股沟和会阴疝、直肠憩室以及膀胱多发憩室。