DOI: https://doi.org/10.14710/jbtr.v12i2.31360

Focal Dermal Hypoplasia (Goltz Syndrome) in a 4-Year-Old Girl: A Rare Case Report

Department of Child Health, Universitas Sebelas Maret, Indonesia

Received: 15 Feb 2026; Revised: 10 Apr 2026; Accepted: 12 May 2026; Available online: 29 Aug 2026; Published: 31 Aug 2026.
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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

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Keywords: Focal dermal hypoplasia, Goltz syndrome, facial asymmetry, papiloma

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Section: Case Reports
Language : EN
  1. Fernandes PH, Wen S, Sutton VR, Ward PA, Van den Veyver IB, Fang P. PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genet Test Mol Biomarkers. 2010;14:709–713. doi: 10.1089/gtmb.2010.0069
  2. Joynt ACM, Axford MM, Chad L, Costain G. Understanding genetic variants of uncertain significance. Paediatr Child Health. 2022;27:10–11. doi: 10.1093/pch/pxab067
  3. Srinivas S, Hiremagalore R. Focal dermal hypoplasia: a rare case report. Indian J Dermatol. 2015;60:106. doi: 10.4103/0019-5154.147876
  4. Nobre ÁVV, Taba M, Silva AR, de Souza SLS, Motta ACF. Focal dermal hypoplasia (Goltz syndrome): a case report showing a wide variety of systemic and oral manifestations. Ann Dermatol. 2022;34(4):291–296. doi: 10.5021/ad.20.120
  5. Alsharif S, Hindi S, Khoja F. Unilateral focal dermal hypoplasia (Goltz syndrome): case report and literature review. Case Rep Dermatol. 2018;10:101–109. doi: 10.1159/000488521
  6. Herlin LK, Herlin MK, Vinter H, Blechingberg J, Andersen BN, Kruse C, et al. Phenotypes, genetics, and estimated prevalence of focal dermal hypoplasia (Goltz syndrome): a single-center report. Pediatr Dermatol. 2024;41:1106–1113. doi: 10.1111/pde.15752
  7. Herlin LK, Schmidt SAJ, Hermann XB, Rønholt K, Bygum A, Schuster A, et al. Prevalence and patient characteristics of ectodermal dysplasias in Denmark. JAMA Dermatol. 2024;160:502. doi: 10.1001/jamadermatol.2024.0023
  8. Bocchini CA. Focal dermal hypoplasia (FDH). In: Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University; 2016. Available from: https://www.omim.org/entry/305600. Accessed January 18, 2026
  9. Fete TJ, Fete M. International research symposium on Goltz syndrome. Am J Med Genet C Semin Med Genet. 2016;172:3–6. doi: 10.1002/ajmg.c.31475
  10. Alamri A, Al Jabri M. Focal dermal hypoplasia: unusual presentation in Saudi Arabia. J Dermatol Dermatol Surg. 2016;20:82–86. doi: 10.1016/j.jdds.2015.11.004
  11. Temple IK, MacDowall P, Baraitser M, Atherton DJ. Focal dermal hypoplasia (Goltz syndrome). J Med Genet. 1990;27:180–187. doi: 10.1136/jmg.27.3.180
  12. Lopez-Porras RF, Arroyo C, Soto-Vega E. Focal dermal hypoplasia with uterus bicornis and renal ectopia: case report and review of the literature. Case Rep Dermatol. 2011;3:158–163. doi: 10.1159/000330733
  13. Freethy A, Acharya V, Iacovidou A, Taghi A. Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK. BMJ Case Rep. 2019;12:e231809. doi: 10.1136/bcr-2019-231809
  14. Motil KJ, Fete M, Fete TJ. Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz–Gorlin syndrome). Am J Med Genet C Semin Med Genet. 2016;172:29–33. doi: 10.1002/ajmg.c.31468
  15. Deidrick KKM, Early M, Constance J, Stein M, Fete TJ. Cognitive and psychological functioning in focal dermal hypoplasia. Am J Med Genet C Semin Med Genet. 2016;172:34–40. doi: 10.1002/ajmg.c.31471
  16. Sutton VR. PORCN-related developmental disorders. GeneReviews [Internet]. 1993 [updated 2017]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1543/. Accessed January 18, 2026
  17. Wu MC, Chao SC, Lee JYY. Focal dermal hypoplasia: report of a Taiwanese case. Dermatol Sinica. 2011;29:59–62. doi: 10.1016/j.dsi.2011.05.004
  18. Bharani S, Thakkar S. A case report of focal dermal hypoplasia (Goltz syndrome). Indian Dermatol Online J. 2013;4:241–243. doi: 10.4103/2229-5178.115535

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