ISSN:
1432-069X
Keywords:
Congenital cutis laxa
;
Collagen synthesis
;
Electron microscopy
;
Morphometry
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary A case of congenital cutis laxa (CCL) of unclear mode of inheritance associated with multiple pulmonary artery branch stenosis was extensively investigated to assess possible correlations between clinical, ultrastructural, and biochemical features. Light microscopy revealed that elastic fibers were absent in the papillary dermis, while hypoplastic elsewhere. Transmission electron microscopy showed a poor elastin matrix content in some elastic fibers, variable diameters of collagen fibrils, and abundant glycogen granules in most dermal cells. Measurement of collagen fibril diameters, using an image analyzer, was carried out in the patient and two age- and site-matched controls. A biomodal distribution was found in the upper reticular dermis of the patient. In vitro analysis of collagen in skin fibroblast cultures of the patient showed increased collagen synthesis with a balanced production of type I and type III procollagens. Our study confirms that CCL represents a disorder both of collagen and elastic connective tissue.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00431223
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