New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies
Article first published online: 13 OCT 2011
© 2011 Wiley Periodicals, Inc.
Volume 29, Issue 1, pages 89–95, January/February 2012
How to Cite
Basel-Vanagaite, L., Sprecher, E., Gat, A., Merlob, P., Albin-Kaplanski, A., Konen, O., Solomon, B. D., Muenke, M., Grzeschik, K.-H. and Sirota, L. (2012), New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies. Pediatric Dermatology, 29: 89–95. doi: 10.1111/j.1525-1470.2011.01403.x
- Issue published online: 18 JAN 2012
- Article first published online: 13 OCT 2011
Abstract: Congenital circumferential skin folds can be found in individuals with no additional defects, as well as in patients with multiple congenital anomalies and developmental abnormalities. Current data point to etiological heterogeneity of syndromic cases. We describe a 7-month-old girl with a novel combination of symmetrical congenital circumferential skin folds, dysmorphic features, and multiple congenital abnormalities. Examination of the patient revealed symmetrical congenital circumferential skin folds and dysmorphic features, as well as multiple congenital anomalies including nasal pyriform aperture stenosis, ventricular septal defect, absent spleen, camptodactyly, and severe psychomotor retardation. Skin biopsy demonstrated subcutaneous fat extending into the superficial and deep reticular dermis. Sequencing of the CDON, SHH, ZIC2, SIX3, and TGIF genes (associated with holoprosencephaly) did not disclose pathogenic alterations. Extensive review of previously described cases of syndromic congenital circumferential skin folds did not reveal a similar combination of clinical and histopathological findings.