J Korean Pediatr Soc.
2001 Oct;44(10):1176-1181.
A Congenital Cutis Laxa Fatality Caused by Early Onset Pulmonary Emphysema
- Affiliations
-
- 1Department of Pediatrics, Sung-Ae General Hospital, Korea. NICU@chonllian.net
- 2Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea.
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.
