Familial aplasia cutis congenita associated with mega-cisterna magna.
Aplasia cutis congenita (ACC; MIM 107600) is a congenital skin disorder that manifests as localized absence of skin. Here we report a case of familial ACC and mega-cisterna magna. A female neonate was born with skin defects on the scalp. Brain magnetic resonance imaging demonstrated retrocerebellar space widening suggesting mega-cisterna magna. Her father also had a skin defect on the scalp at birth, and brain computed tomography of the father showed a cystic lesion over the right occipital lobe, similar to the patient's brain imaging. Karyotype 46,XX, t(6;18)(q23.2;q11.2) was identified on G-banded karyotype analysis of the patient and her father, after which whole exome sequencing was carried out, but this was thought to be a coincidental finding. This indicates that ACC may be associated with brain anomaly, although it is very rare.
Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea.
Eun Hye
EH
Lee
Laboratory Medicine, Kyung Hee University School of Medicine, Seoul, Korea.
Tae Sung
TS
Park
Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea. feelhope@khu.ac.kr.
Yong-Sung
YS
Choi
Green Cross Genome, Yongin, Korea.
Eun-Hae
EH
Cho
D002946:Cisterna Magna / Q000000981:diagnostic imaging*; D004476:Ectodermal Dysplasia / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D012867:Skin / Q000000981:diagnostic imaging
aplasia cutis congenita; brain anomaly; chromosome; translocation