Goltz-Gorlin Syndrome: A Case Report and Literature Review
Sandra C Perez-Hernandez1, Andrea Zaragoza-Navarro1, Diana L Vazquez-Cantu1
1Dermatology, Instituto Dermatológico de Jalisco "Dr. José Barba Rubio", Zapopan, MEX.
Cureus
|July 10, 2026
Summary
Goltz-Gorlin syndrome (focal dermal hypoplasia) is a rare mesoectodermal dysplasia causing varied symptoms. This case highlights effective treatment with 5-fluorouracil and isotretinoin for extensive papillomatous lesions.
Area of Science:
- Genetics
- Dermatology
- Rare Diseases
Background:
- Goltz-Gorlin syndrome (focal dermal hypoplasia, FDH) is an uncommon X-linked dominant mesoectodermal dysplasia.
- It affects mesodermal and ectodermal tissues, leading to multisystem abnormalities, primarily in females.
- Characterized by distinctive cutaneous and extracutaneous findings affecting ocular, dental, skeletal, and other systems.
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