| A Congenital Cutis Laxa Fatality Caused by
Early Onset Pulmonary Emphysema |
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Tae Won Lee1, Seung Jun Seong1, Yoo Mi Jeung2, Jae Bok Kim1, Eun Ryoung Kim1, Yong Su Yoon2 |
1Department of Pediatrics, Sung-Ae General Hospital, Seoul, Korea
2Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea |
| 난치성 폐기종으로 사망한 선천성 피부이완증 1례 |
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이태원1, 성승준1, 정유미2, 김재복1, 김은령1, 윤용수2 |
1성애병원 소아과
2서울대학교 의과대학 소아과학교실 |
Correspondence:
Eun Ryoung Kim, Email: NICU@chollian.net
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| Abstract |
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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. |
| Key Words:
Congenital cutis laxa, Pulmonary emphysema |
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