Chronic leg ulcerations resembling vasculitis in two siblings with prolidase deficiency.
Two cases of prolidase deficiency in two siblings are presented. The patients complained of the typical clinical symptoms of the disease, including chronic leg ulcerations resembling vasculitis. They were mentally retarded, had typical facial characteristics, splenomegaly, and haematologic anomalies. Biochemical and morphological investigations confirmed the diagnosis. In these cases, alterations of the peripheral nervous system and decreased IgA levels were demonstrated for the first time.
Cantatore
F P
FP
Department of Rheumatology, University of Bari, Italy.
Papadia
F
F
Giannico
G
G
Simonetti
S
S
Carrozzo
M
M
D000293:Adolescent; D000328:Adult; D001769:Blood / Q000378:metabolism; D002908:Chronic Disease; D004150:Dipeptidases / Q000172:deficiency*; D005145:Face / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007871:Leg Ulcer / Q000209:etiology* / Q000473:pathology*; D008297:Male; D009336:Necrosis; D014657:Vasculitis / Q000473:pathology*
D004150:Dipeptidases; C022449:proline dipeptidase