Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

Sofia Frisk; Catherine Grandpeix-Guyodo; Karin Popovic Silwerfeldt; Helgi Thor Hjartarson; Dimitris Chatzianastassiou; Irina Magnusson; Tobias Laurell; Ann Nordgren

doi:10.1002/ccr3.1783

Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

Clin Case Rep. 2018 Sep 21;6(11):2103-2110. doi: 10.1002/ccr3.1783. eCollection 2018 Nov.

Authors

Sofia Frisk^{1

2}, Catherine Grandpeix-Guyodo³, Karin Popovic Silwerfeldt³, Helgi Thor Hjartarson⁴, Dimitris Chatzianastassiou⁵, Irina Magnusson³, Tobias Laurell^{1

6}, Ann Nordgren^{1

2}

Affiliations

¹ Department of Molecular Medicine and Surgery Center of Molecular Medicine Karolinska Institutet Stockholm Sweden.
² Department of Clinical Genetics Karolinska University Laboratory Karolinska University Hospital Stockholm Sweden.
³ Department of Dermatology Danderyd Hospital Stockholm Sweden.
⁴ Department of Neuropediatrics Astrid Lindgren Children's Hospital Stockholm Sweden.
⁵ Department of Clinical Pathology Karolinska University Hospital Stockholm Sweden.
⁶ Department of Hand Surgery Södersjukhuset Stockholm Sweden.

Abstract

Here, we report a novel mosaic mutation in the PORCN gene in a male Goltz syndrome patient. We also compare the phenotypes of all reported males with a confirmed molecular diagnosis. This report serves to further clarify the phenotype of Goltz syndrome and suggests that expression in males varies.

Keywords: Goltz syndrome; PORCN; focal dermal hypoplasia; male.

Publication types

Case Reports