Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome

Anna Bolzon; Francesca Caroppo; Lisa Passaglia; Francesca Boaretto; Leonardo Salviati; Anna Belloni Fortina

doi:10.1002/ccr3.71592

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome

Clin Case Rep. 2026 Feb 2;14(2):e71592. doi: 10.1002/ccr3.71592. eCollection 2026 Feb.

Authors

Anna Bolzon¹, Francesca Caroppo^{1

2

3}, Lisa Passaglia⁴, Francesca Boaretto⁵, Leonardo Salviati^{4

5}, Anna Belloni Fortina^{2

3}

Affiliations

¹ Dermatology Unit, Department of Medicine (DIMED) University of Padua Padua Italy.
² Pediatric Dermatology Regional Center, Department of Women and Children's Health University of Padua Padua Italy.
³ European Network for Rare Skin Disorders (ERN-Skin) Padua Italy.
⁴ Clinical Genetics Unit, Department of Women's and Children's Health University of Padova Padova Italy.
⁵ Institute of Pediatric Research Città Della Speranza Padua Italy.

Abstract

We report the first female case of Goltz-Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.

Keywords: Goltz–Gorlin syndrome; PORCN; Wnt signaling pathway; genetic diseases; mutation; rare skin diseases.