Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings

Area of Science:

• Genetics
• Dermatology
• Biochemistry

Background:

• Prolidase deficiency (PD) is a rare autosomal recessive genodermatosis.
• It stems from mutations in the peptidase-D gene, affecting collagen metabolism.
• Clinical presentations are variable, often including skin issues and systemic findings.

Observation:

• Two siblings presented with dysmorphic features, abnormal blood work, and chronic, treatment-resistant leg ulcers.
• Genetic analysis identified a homozygous pathogenic variant (c.549-1G > A) in the peptidase-D gene.
• The patients had long-standing, severe leg ulcerations.

Findings:

• A compounded topical ointment containing 5% proline and 5% glycine was administered daily.
• Partial healing of leg ulcerations was observed within three months of treatment initiation.
• Treatment efficacy was evaluated over an 8-month follow-up period.

Implications:

• This case report highlights a potential therapeutic approach for prolidase deficiency.
• It suggests incorporating PD into the differential diagnosis for chronic leg ulcers, especially in young patients.
• Further research into topical proline and glycine therapy for PD-related ulcerations is warranted.