Geroderma osteodysplastica. Report of a new family
| Autor: | Raúl A. Asial, Beatriz C. Winik, María del Carmen Boente |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Male
Pathology medicine.medical_specialty Prematurely aged face Osteoporosis Dermatology Gerodermia osteodysplastica Joint laxity Cutis Laxa Diagnosis Differential medicine Humans Child business.industry Syndrome medicine.disease Fragmented elastic fibers Pedigree Bone Diseases Metabolic Child Preschool Pediatrics Perinatology and Child Health Female Skeletal abnormalities Differential diagnosis business Cutis laxa |
| Zdroj: | Pediatric dermatology. 23(5) |
| ISSN: | 0736-8046 |
| Popis: | We report a family in which geroderma osteodysplastica affected two male siblings. They showed the characteristic features associated with this syndrome: a prematurely aged face with wrinkly, lax skin, more prominent on the acral regions, associated with joint laxity, osteoporosis, and skeletal abnormalities. The main histologic abnormalities were fragmented elastic fibers that were diminished in number. Although collagen fibers showed changes in their orientation, they were normal in structure and number. We consider the differential diagnosis with other syndromes associated with cutis laxa using clinical, radiologic, and histopathologic criteria. |
| Databáze: | OpenAIRE |
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