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

Area of Science:

• Genetics and Metabolic Disorders
• Dermatology
• Rare Diseases

Background:

• Prolidase deficiency (PD) is an ultra-rare autosomal recessive disorder.
• It stems from impaired collagen degradation, causing proline-rich dipeptide accumulation.
• Clinical manifestations include skin ulcers, distinctive facial features, and intellectual deficits.

Observation:

• A cluster of three siblings (17, 19, 20 years) presented with classic PD symptoms.
• They exhibited non-healing leg ulcers, hypertelorism, depressed nasal bridge, intellectual impairment, and high-arched palate.
• The patients had limited access to specialized diagnostics and treatments due to socioeconomic factors.

Findings:

• Despite challenges, a tailored, improvised therapy combining three modalities was implemented.
• Patients demonstrated remarkable clinical progress and improvement in their condition.
• The study highlights successful management strategies in resource-limited settings.

Implications:

• This case series underscores the importance of recognizing PD even in resource-limited environments.
• Improvised therapeutic approaches can yield significant positive outcomes for rare diseases.
• Further research into accessible treatments for PD is warranted.