All issues > Volume 44(10); 2001

Case Report

J Korean Pediatr Soc. 2001;44(10):1176-1181. Published online October 15, 2001.

A Congenital Cutis Laxa Fatality Caused by Early Onset Pulmonary Emphysema

Tae Won TW Lee¹, Seung Jun SJ Seong¹, Yoo Mi YM Jeung², Jae Bok JB Kim¹, Eun Ryoung ER Kim¹, Yong Su YS Yoon²

¹Department of Pediatrics, Sung-Ae General Hospital, Seoul, Korea
²Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea

Correspondence Eun Ryoung ER Kim ,Email: NICU@chollian.net

Abstract

Cutis laxa is a rare disorder of the elastic tissue characterized by loosely hanging and folded skin giving a premature senile appearance, often with internal organ involvement. Recently, we experienced a case of cutis laxa in a neonate. The patient who presented with dyspnea and loose skin at birth was delivered by Cesarean section in our hospital. He was the third baby of his mother and his siblings had no problem including skin. Physical examination on admission revealed a dyspneic neonate with skin showing loose folds, wrinkles and sagging over the face, neck, trunk and thighs. He had no family history of skin disease suggestive of cutis laxa. Histopathologic study of the skin specimen showed widespread breakdown and decreased number of elastic fibers with granular degeneration, shortening, and fragmentation. He had been dependent on ventilatory support throughout his hospital course and finally succumbed to intractable pulmonary emphysema at the age of 220 days.

Keywords :Congenital cutis laxa, Pulmonary emphysema