A Congenital Cutis Laxa Fatality Caused by Early Onset Pulmonary Emphysema.
- Author:
Tae Won LEE
1
;
Seung Jun SEONG
;
Yoo Mi JEUNG
;
Jae Bok KIM
;
Eun Ryoung KIM
;
Yong Su YOON
Author Information
1. Department of Pediatrics, Sung-Ae General Hospital, Korea. NICU@chonllian.net
- Publication Type:Case Report
- Keywords:
Congenital cutis laxa;
Pulmonary emphysema
- MeSH:
Cesarean Section;
Cutis Laxa*;
Dyspnea;
Elastic Tissue;
Female;
Humans;
Infant, Newborn;
Mothers;
Neck;
Parturition;
Physical Examination;
Pregnancy;
Pulmonary Emphysema*;
Siblings;
Skin;
Skin Diseases;
Thigh
- From:Journal of the Korean Pediatric Society
2001;44(10):1176-1181
- CountryRepublic of Korea
- Language:Korean
-
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.
