Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
April 2023
in “
Curēus
”
Studysummary This report describes a case of Goltz syndrome in a 12-year-old Saudi girl, highlighting the variability in symptoms and the importance of documenting such rare syndromes. Our plain-language summary of this paper — not a Tressless recommendation.
A 12-year-old Saudi girl with no significant family history was diagnosed with Focal dermal hypoplasia (FDH), or Goltz syndrome, a rare condition characterized by patchy skin hypoplasia and other symptoms such as hyperpigmentation, hypopigmentation, and papillomas. Her physical examination showed asymmetrical streaks of dermal atrophy, telangiectasia, and pigmentary changes on her face, trunk, and limbs, following Blaschko lines, with no mental impairment. Intraoral examination revealed gingivitis, gingival hyperplasia, and dental anomalies including enamel hypoplasia, abnormal tooth formations, and minimal caries. The case highlights the variability of FDH manifestations and the need for individualized management, underscoring the importance of reporting such cases to better understand the syndrome.
