[Complete alpha-1-antitrypsin deficiency in a patient with Ehlers-Danlos syndrome].
Complete alpha-1-antitrypsin deficiency of the type PiOO associated with chronic obstructive lung disease, cutaneous hyperextensibility and hyperlaxity of joints were found in a nineteen-year-old Moroccan boy. On a nosological point of view, this patient could be included as a 8th form, in the Ehlers-Danlos syndrome which now groups seven clinical variants. A causal relationship between the biological deficiency and the clinical alterations (pulmonary, cutaneous and articular) could be assumed according to the biological and ultrastructural findings.
D000328:Adult; D003094:Collagen; D004535:Ehlers-Danlos Syndrome / Q000097:blood* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D012867:Skin / Q000473:pathology; D019896:alpha 1-Antitrypsin Deficiency
D003094:Collagen
Déficience totale en alpha-I-antitrypsine chez un malade atteint d'un syndrome d'Ehlers-Danlos