Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia

April 2023 in “ Curēus ”

Nouf Faihan Bin Rubaian, Nada Alghamdi, Bayan Alhaddad, Hawra AlJanobi, Abdulmajeed S Alharbi

Focal dermal hypoplasia Goltz syndrome skin hypoplasia hyperpigmentation hypopigmentation papillomas dermal atrophy telangiectasia pigmentary changes Blaschko lines gingivitis gingival hyperplasia enamel hypoplasia

TLDR A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.

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.

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