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, 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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Abbreviations
- PNC:
-
polymorphonuclear cells
- RBC:
-
red blood cells
References
Albini A, Pontz BF, Mensing H, Pilz C, Müller PK (1984) Fibroblast-conditioned medium as chemoattractant. Deteriorating response of senescent human fibroblasts and progeroid cells. Z Physiol Chem 365:960
Ammann AJ, Sutliff W, Millinchick E (1974) Antibody-mediated immunodeficiency in short-limbed dwarfism. J Pediatr 84:200–203
De Barsy AM, Moens E, Dierckx L (1968) Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. A new syndrome? Helv Paediatr Acta 23:305–313
Bartsocas CS, Dikmitriou J, Kavadias A, Kyrzopoulos D (1982) De Barsy syndrome. In: Papadatos CJ, Bartsocas CS (eds) Skeletal dysplasia. Alan R Liss Inc, New York, pp 157–160
Beighton P (1972) The dominant and recessive forms of cutis laxa. J Med Genet 9:216–221
Burck U (1974) De Barsy-Syndrom — eine weitere Beobachtung. Klin Pädiatr 186:441–444
Epstein EH, Scott RD, Miller EJ, Piez KA (1971) Isolation and characterization of the peptides derived from soluble human and baboon skin collagen after cyanogen bromide cleavage. J Biol Chem 246:1718–1724
Fulgiuiti UA, Hathaway WE, Pearlman DS, Kempe CH (1967) Agammaglobulinemia and achondroplasia. Br Med J 2:242–249
Gatti RA, Platt N, Pomerance HH, Hong R, Langer LO, Kay HEM, Good RA (1969) Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia. J Pediatr 75:675–684
Goecke T, Kiekens R, Majewski F, Pothmann R (1980) Cutis laxa, Hornhauttrübung und geistige Retardierung: Das de Barsy-Syndrom. In: Spranger J, Tolksdorf M (eds) Klinische Genetik in der Pädiatrie. Georg Thieme Verlag, Stuttgart New York, pp 139–143
Hartzmann RJ, Segall M, Bach MC, Bach FH (1971) Histocompatibility matching. VI. Miniaturization of the mixed leukocyte culture test: a preliminary report. Transplantation 2:268–273
Hoefnagel D, Pomeroy J, Wurster D, Saxon A (1971) Congenital athethosis, mental deficiency, dwarfism and laxity of skin and ligaments. Helv Paediatr Acta 26:397–402
Jansway CA, Gitlin D, Graig JM, Grice DS (1956) Collagen diseases in patients with congenital agammaglobulinemia. Trans Assoc Am Physicians 69:93–98
Laemmli VK (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680–685
Layman DL, McGoodwin EB, Martin GR (1971) The nature of the collagen synthesized by cultured human fibroblasts. Proc Natl Acad Sci 68:454–458
Lux SE, Johnston RBJ, August CS (1970) Chronic neutropenia and abnormal cellular immunity in cartilage hair dysplasia. N Engl J Med 282:231–236
McKusick VA (1972) Heritable disorders of connective tissue, 4th edn. St Louis, CV Mosby
Mensing H, Pontz BF, Müller PK, Gauss-Müller V (1983) A study on fibroblast chemotaxis using fibronectin and conditioned medium as chemoattractants. Eur J Cell Biol 29:268–273
Pontz BF, Müller PK, Meigel WN (1974) A study on the conversion of procollagen. Release and recovery of procollagen peptides in the culture medium. J Biol Chem 248:7558–7564
Pontz BF, Albini A, Mensing H, Cantz M, Müller PK (1984) Pattern of collagen synthesis and chemotactic response of fibroblasts derived from mucopolysaccharidoses patients. Exp Cell Res 155:457–466
Postlethwaite AE, Snyderman R, Kang AH (1976) The chemotactic attraction of human embryo fibroblasts to a lymphocyte-derived factor. J Exp Med 144:1188–1203
Riebel T (1976) De Barsy-Moens-Dierckx-Syndrom: eine Beobachtung bei Geschwistern. Monatsschr Kinderheilkd 124:96–98
Schopf RE, Lemmel EM (1983) Control of the production of oxygen intermediates of human polymorphonuclear leukocytes and monocytes by beta-adrenergic receptors. J Immunopharmacol 5(3):203–210
Spurr AR (1969) A low-viscosity resin embedding for electron microscopy. J Ultrastruct Res 26:31–43
Stricklin GP, Bauer EA, Jeffrey JJ, Eisen AZ (1977) Human skin collagenase: isolation of precursors and active forms from both fibroblast and organ cultures. Biochemistry 16:1607–1615
Trump BF, Jones RT (1978) Diagnostic electron microscopy, vol 1. J Wiley and Sons, New York
Wiedemann H-R (1969) Über einige progeroide Krankheitsbilder und deren diagnostische Einordnung. Z Kinderheilk 107:91–106
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Pontz, B.F., Zepp, F. & Stöß, H. Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome). Eur J Pediatr 145, 428–434 (1986). https://doi.org/10.1007/BF00439254
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00439254