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Familial aplasia cutis congenita associated with mega‐cisterna magna
Author(s) -
Lee Eun Hye,
Park Tae Sung,
Choi YongSung,
Cho EunHae
Publication year - 2016
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.13041
Subject(s) - medicine , aplasia cutis congenita , mega , dermatology , cisterna magna , anatomy , pathology , scalp , cerebrospinal fluid , physics , astronomy
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.