title: A rare case of aplasia cutis congenita with refractory seizures.
abstract: Aplasia cutis congenita is a heterogeneous disorder involving symmetric focal absence of skin at birth. A 1-year-old boy presented with the clinical manifestation of intractable complex partial seizures and development delay; physical examination revealed two fibrotic scars and alopecia. His parents were suspicious that the lesions were caused by birth trauma. The dermatologic diagnosis of aplasia cutis congenita was established, and cranial magnetic resonance imaging revealed a bony defect. Initially, the seizures were refractory and responded poorly to phenobarbital. Treatment with oxcarbazepine, levetiracetam, and clobazam achieved significant control. Although the presentation of aplasia cutis congenita with seizures is unusual, aplasia cutis congenita should, based on the present case, be considered as at least in part a neurocutaneous disorder.
authors.affiliation: Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
authors.forename: Po-Chuang
authors.initials: PC
authors.lastname: Wu
authors.forename: Jian-Ping
authors.initials: JP
authors.lastname: Jiang
authors.forename: Chih-Chien
authors.initials: CC
authors.lastname: Wang
authors.forename: Shyi-Jou
authors.initials: SJ
authors.lastname: Chen
mesh_terms: D004476:Ectodermal Dysplasia / Q000150:complications* / Q000473:pathology / Q000503:physiopathology; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D012640:Seizures / Q000150:complications* / Q000473:pathology / Q000503:physiopathology