Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome).

Abstract

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, elastic 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 imparied granulocyte function.

• Authors: B F Pontz, F Zepp, H Stöss
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 145 Issue 5 Pg. 428-34 (Oct 1986) ISSN: 0340-6199 [Print] Germany
• PMID: 3491758 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Collagen

Topics

• Chemotaxis
• Collagen (analysis)
• Cutis Laxa (congenital, immunology, pathology)
• Granulocytes (immunology, physiology)
• Humans
• Infant
• Male
• Skin (pathology, ultrastructure)
• T-Lymphocytes (immunology)