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Pridania Vidya
Department of Child Health, Universitas Sebelas Maret
Biochemistry, Genetics & Molecular Biology Medicine & Pharmacology

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Focal Dermal Hypoplasia (Goltz Syndrome) in a 4-Year-Old Girl: A Rare Case Report Rabi'atul Adawiyah; Sandi Nugraha; Pridania Vidya
Journal of Biomedicine and Translational Research Vol 12, No 2 (2026): August 2026
Publisher : Faculty of Medicine, Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v12i2.31360

Abstract

Background: Focal dermal hypoplasia (FDH) is a rare X-linked dominant genetic disorder characterized by dermal hypoplasia along Blaschko’s lines and multisystem involvement.Case Presentation: We reported a 4-year-old girl who presented with facial asymmetry, alopecia, polydactyly, oral papillomas, and linear hypopigmented atrophic skin lesions following Blaschko’s lines, along with nystagmus and proptosis of the eyeball. Whole exome sequencing, performed in the patient and both parents, identified a heterozygous chrX:48372971 NM_203475.3:c.904G>T (p.Val302Phe) variant in the PORCN gene, which is essential for Wnt protein secretion and signaling.1 The variant was absent in both parents, indicating a de novo event. According to the American College of Medical Genetics and Genomics (ACMG) criteria, the variant was classified as a Variant of Uncertain Significance (VUS) due to limited available evidence.2 However, the strong phenotypic concordance with FDH and the de novo occurrence support its potential pathogenicity and may justify reclassification toward likely pathogenic.Conclusion: The clinical and genetic findings support a diagnosis of FDH (Goltz syndrome). This case represents the first reported case in Indonesia and highlights the importance of integrating genotype and phenotype in interpreting VUS and contributes to the expanding spectrum of PORCN mutations.Keywords: Focal dermal hypoplasia, Goltz syndrome, facial asymmetry, papilloma
Co-Authors Rabi'atul Adawiyah Sandi Nugraha