Aplasia Cutis Congenita with Ischemic Cortical Change and Normal Array Cytogenetic Analysis with a Fetus Papyraceus Twin. (4th July 2018)

• Record Type: Journal Article
• Authors: Skillen, Laura A.; Gates, Damien; Collins, Julie-Ann; Saxena, Nivedita; Hurrell, Daniel; McKenna, Kevin; Morrison, Patrick J.
• Is Part Of: Fetal and pediatric pathology. Volume 37:Number 4(2018)
• Page Start: 276
• Page End: 281
• Publication Date: 2018-07-04
• Subjects: Fetus papyraceus -- array cytogenetic analysis -- ischemic etiology; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2018.1483453
• Languages: English
• ISSNs: 1551-3815

Abstract

Abstract: Background : Aplasia cutis congenita (ACC) is a heterogeneous condition that can be associated with fetus papyraceus. Few reports exist documenting genetic investigations in ACC or determining the etiology and recurrence risks. Objective : We present a Frieden group 5 ACC with fetus papyraceus along with molecular studies. Results : The newborn had multifocal aplasia cutis congenita involving the head, trunk, and limbs with cerebral ischemic changes demonstrated by imaging. The newborn had a monochorionic twin fetus papyraceus. The array cytogenetic analysis was normal. Conclusion : Supported by the ischemic cerebral damage, a monochorionic twin fetus papyraceus (monochorionic twins often have vascular anastomoses), and a normal cytogenetic array, this ACC with Frieden group 5 may have resulted from rapid but non-fatal exsanguination of the surviving twin into the dead twin. This type of ACC may have a low recurrence risk.