Cluster Case of Prolidase Deficiency: Varied Clinical Presentations and Management in a Sibling Trio
Saud Azhar,
Palwasha Khan,
Fahad Faizullah
et al.
Abstract:Prolidase deficiency (PD) is an exceptionally rare autosomal recessive disorder characterized by impaired collagen degradation, leading to the accumulation of proline-containing dipeptides. We report a cluster case of three siblings aged 17, 19, and 20 years, comprising of two sisters and one brother, who presented with non-healing ulcers on their shins and feet along with facial features of hypertelorism, depressed nasal bridge, reduced intellectual function, and high-arched palate. History and clinical featu… Show more
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