Article
Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings.
Advances in skin & wound care - 1 Nov 2021
Hajjar Nancy, Kabbani Mariam, Tannous Rim, Lebre Anne-Sophie, Megarbane Andre, Minari Afaf, El Sayed Fouad
Abstract excerpt
ABSTRACT: Prolidase deficiency (PD) is a rare autosomal recessive genodermatosis with variable clinical manifestations. It results from a mutation in the peptidase-D gene that leads to abnormal activity of the prolidase enzyme, an important player in collagen catabolism. The authors report the case of two siblings presenting with dysmorphic features, disturbed blood panel, and recalcitrant leg ulcerations of...
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