DIAGNOSTIC DILEMMAS Pediatric Dermatology Vol. 9 No. 3 293-297
Aplasia Cutis Congenita, Cleft Palate, Epidermolysis Bullosa, and Ectrodactyly: A New Syndrome? Evelyn M. Jones, M.D.,* Joseph H. Hersh, M.D.,t and Janice W. Yusk, M.D.* *Division of Dermatology, and *f Child Evaluation Center, Department of Pediatrics, University of Louisville
Abstract: Aplasia cutis congenita (ACC) is a skin disorder in which localized or widespread areas of skin are absent at birth. It has been associated with numerous anomalies and recognizable syndromes. We report a newborn infant with ACC of the scalp, multiple facial abnormalities including cleft palate but not cleft lip, hypoplasia of the distal phalanges of the hands, ectrodactyly ot the feet, and epidermoiysis bullosa of the extremities and lower trunk. Although this patient had some features that overlapped with ectrodactyly-ectodermal dyspiasia-clefttng syndrome, the absence of cleft lip and presence of additional skin abnormalities made that diagnosis unlikely. This could represent a newly recognized syndrome of numerous malformations in which ACC is associated with a constellation of previously undescribed structural anomalies. CASE REPORT The patient was the first liveborn child of a 26-yearold gravida 3 woman who had two prior firsttrimester spontaneous abortions. The parents had no medical problems and were not consanguineous. The remainder of the family history was unremarkable. The pregnancy was complicated by spotting at 10 weeks' gestation. An ultrasound examination in the second trimester revealed missing toes and oligohydramnios. At 32 weeks' gestation the mother was hospitalized for preeclampsia. External fetal monitoring revealed fetal decelerations necessitating cesarean delivery, at which time amniotic fluid was absent. Apgar scores were 8 at both 1 and 5 minutes.
The infant had numerous congenital anomalies. Her weight was 1080g (
Aplasia Cutis Congenita, Cleft Palate, Epidermolysis Bullosa, and Ectrodactyly: A New Syndrome? Evelyn M. Jones, M.D.,* Joseph H. Hersh, M.D.,t and Janice W. Yusk, M.D.* *Division of Dermatology, and *f Child Evaluation Center, Department of Pediatrics, University of Louisville
Abstract: Aplasia cutis congenita (ACC) is a skin disorder in which localized or widespread areas of skin are absent at birth. It has been associated with numerous anomalies and recognizable syndromes. We report a newborn infant with ACC of the scalp, multiple facial abnormalities including cleft palate but not cleft lip, hypoplasia of the distal phalanges of the hands, ectrodactyly ot the feet, and epidermoiysis bullosa of the extremities and lower trunk. Although this patient had some features that overlapped with ectrodactyly-ectodermal dyspiasia-clefttng syndrome, the absence of cleft lip and presence of additional skin abnormalities made that diagnosis unlikely. This could represent a newly recognized syndrome of numerous malformations in which ACC is associated with a constellation of previously undescribed structural anomalies. CASE REPORT The patient was the first liveborn child of a 26-yearold gravida 3 woman who had two prior firsttrimester spontaneous abortions. The parents had no medical problems and were not consanguineous. The remainder of the family history was unremarkable. The pregnancy was complicated by spotting at 10 weeks' gestation. An ultrasound examination in the second trimester revealed missing toes and oligohydramnios. At 32 weeks' gestation the mother was hospitalized for preeclampsia. External fetal monitoring revealed fetal decelerations necessitating cesarean delivery, at which time amniotic fluid was absent. Apgar scores were 8 at both 1 and 5 minutes.
The infant had numerous congenital anomalies. Her weight was 1080g (
