Conflicts of interest: None.
Goltz syndrome and PORCN mosaicism
Article first published online: 11 JUL 2014
© 2014 The International Society of Dermatology
International Journal of Dermatology
Volume 53, Issue 12, pages 1481–1484, December 2014
How to Cite
Stevenson, D. A., Chirpich, M., Contreras, Y., Hanson, H. and Dent, K. (2014), Goltz syndrome and PORCN mosaicism. International Journal of Dermatology, 53: 1481–1484. doi: 10.1111/ijd.12605
- Issue published online: 26 NOV 2014
- Article first published online: 11 JUL 2014
- University of Utah Clinical Genetics Research Program: Phenotyping Core (CGRP)
- National Center for Research Resources
- National Center for Advancing Translational Sciences
- National Institutes of Health. Grant Number: UL1RR025764
Goltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent/dysplastic teeth, and skeletal anomalies. Goltz syndrome is an X-linked disorder due to mutations in PORCN, with a predominance of females affected. Germline mutations in PORCN are thought to result in embryonically lethality in males. We present a boy with a phenotype consistent with Goltz syndrome with low-level mosaicism for a novel mutation in PORCN from peripheral blood (c.956dupA; p.Asn320GlufsX99).