[Ehlers-Danlos syndrome. Description of 2 clinical cases].
The paper describes the clinical symptoms and biochemical tests carried out in two girls suffering from Ehlers-Danlos syndrome. The most typical clinical feature, which is common to both cases, was the presence of skin alterations at the extensor surface level of elbows and, above all, knees. These alterations appeared to be delimited areas with irregular margins where the skin was thin, dry, hyperpigmented, wrinkled, with scanty or absent subcutaneous tissue. Biochemical tests carried out on cutaneous fibroblast cultures excluded the presence type I collagen alterations and an altered secretion of type I or III procollagen secretion. The Authors discuss the attribution of cases presented within the context of the various forms of Ehlers-Danlos syndrome in relation to clinical findings and the results of the biochemical tests.
Ottolini
A
A
Divisione di Neuropsichiatria Infantile, Fondazione Istituto Neurologico C. Mondino, Pavia.
Berardinelli
A
A
Besana
D
D
Cetta
G
G
Dyne
K M
KM
Lanzi
G
G
D000293:Adolescent; D001669:Biochemical Phenomena; D001671:Biochemistry; D002478:Cells, Cultured; D003094:Collagen / Q000378:metabolism; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans
D003094:Collagen
La sindrome di Ehlers-Danlos. Descrizione di due casi clinici.