Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome)
| Autor: | Fred Zepp, Pontz Bf, Stöss H |
|---|---|
| Rok vydání: | 1986 |
| Předmět: |
Male
Pathology medicine.medical_specialty T-Lymphocytes Granulocyte Cutis Laxa medicine Humans Amino acid content Skin Cultured skin biology Chemotaxis Infant medicine.disease medicine.anatomical_structure Pediatrics Perinatology and Child Health Immunology Collagen metabolism De Barsy syndrome biology.protein Collagen Elastin Cutis laxa Granulocytes |
| Zdroj: | European journal of pediatrics. 145(5) |
| ISSN: | 0340-6199 |
| Popis: | Clinical symptoms of a male infant are described and compared with cases now classified as the De Barsy syndrome, a distinct disorder related to cutis laxa. Morphologically, clastic fibres in skin were frayed and reduced in number and density. The collagen fibril network was normal. Biochemical studies on collagen metabolism in a skin specimen and in cultured skin fibroblasts showed a normal amino acid content and a normal electrophoretic pattern of collagen constituents. The chemotactic migration of cultured fibroblasts was diminished when compared with fibroblasts from donors of different age groups. Immunological investigations revealed an impaired granulocyte function. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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