Almost Unilateral Focal Dermal Hypoplasia in a Young YemeniGirl: A Case Report

Authors

  • Mohammad Ali Alshami Department of Dermatology, Faculty of Medicine and Health Sciences, Sana’a University, Sana’a, Yemen Author
  • Ahlam Mohammad Alshami Department of Conservative Dentistry, Faculty of Dentistry, Sana’a University, Sana’a, Yemen Author
  • Hadeel Mohammad Alshami Department of Dermatology, Faculty of Medicine and Health Sciences, Sana’a University, Sana’a, Yemen Author
  • Reem Mohammad Lutf Department of Dermatology, Faculty of Medicine and Health Sciences, Sana’a University, Sana’a, Yemen Author

DOI:

https://doi.org/10.47363/JCIR/2025(4)141

Keywords:

Focal Dermal Hyperplasia, Goltz Syndrome, Unilateral, X-linked Genetic Disorder

Abstract

Focal dermal hypoplasia (FDH), also known as Goltz syndrome or Goltz–Gorlin syndrome, is an extremely rare X-linked dominant multisystem genodermatosis caused by mutations in the PORCN gene on the X chromosome. These mutations primarily affect ectodermal- and mesodermal-derived tissues, including the skin, skeletal system, and eyes. To date, approximately 300 cases have been reported in the literature, with 95% of cases occurring in females. FDH typically involves both sides of the body; however, only 11 cases of unilateral FDH have been reported. Herein, we discuss the case of a 15-year-old Yemeni girl with an almost unilateral (left-sided) distribution of blaschkoid atrophic lesions accompanied by limb defects. FDH was diagnosed based on the typical clinical findings. To the best of our knowledge, this is the first reported case of FDH in Yemen.

Author Biographies

  • Mohammad Ali Alshami, Department of Dermatology, Faculty of Medicine and Health Sciences, Sana’a University, Sana’a, Yemen

    Department of Dermatology, Faculty of Medicine and Health Sciences, Sana’a University, Sana’a, Yemen

  • Ahlam Mohammad Alshami, Department of Conservative Dentistry, Faculty of Dentistry, Sana’a University, Sana’a, Yemen

    Department of Conservative Dentistry, Faculty of Dentistry, Sana’a University, Sana’a, Yemen

  • Hadeel Mohammad Alshami, Department of Dermatology, Faculty of Medicine and Health Sciences, Sana’a University, Sana’a, Yemen

    Department of Dermatology, Faculty of Medicine and Health Sciences, Sana’a University, Sana’a, Yemen

  • Reem Mohammad Lutf, Department of Dermatology, Faculty of Medicine and Health Sciences, Sana’a University, Sana’a, Yemen

    Department of Dermatology, Faculty of Medicine and Health Sciences, Sana’a University, Sana’a, Yemen

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Published

2025-06-27

Issue

Vol. 4 No. 1 (2025): Volume 4 Issue 1

Section

Articles