Cluster Case of Prolidase Deficiency: Varied Clinical Presentations and Management in a Sibling Trio.

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 features were consistent with PD. Due to the rarity of the disease and low socioeconomic background of the patients, specialized investigations or treatments were either unavailable or inaccessible. Furthermore, surgical intervention was ill-advised. Despite these challenges, patients were treated using improvised tailored therapy using three different modalities and showed remarkable progress. The evaluation and management took place at the dermatology unit of Hayatabad Medical Complex in Peshawar, Pakistan.