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Geroderma Osteodysplastica in Two Patients: Clinical, Genetic, and Management Insights
Waleed Almutairi1, Ahmed Alibrahim1, Faisal Alrashed2
1Division of Endocrinology and Metabolism, Department of Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Journal of Medical Cases
|July 23, 2026
Summary
Geroderma osteodysplastica (GO), a rare genetic disorder, presents with premature skin aging and bone fragility. This study details two Saudi adult cases, confirming homozygous pathogenic variants in the GORAB gene and discussing management strategies.
Area of Science:
- Genetics
- Osteology
- Dermatology
Background:
- Geroderma osteodysplastica (GO) is a rare autosomal recessive connective tissue disorder.
- It is characterized by premature skin aging, joint laxity, and osteoporosis with recurrent fractures.
- Pathogenic variants in the GORAB gene cause GO.