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Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings
Nancy Hajjar1, Mariam Kabbani, Rim Tannous
1At the Division of Dermatology, Faculty of Medicine, Lebanese University, Beirut, Lebanon, Nancy Hajjar, MD, is Dermatology Resident; Mariam Kabbani, MD, is Dermatology Resident; and Rim Tannous, MD, is Dermatology Resident. Anne-Sophie Lebre, PhD, PharmD, is Biologist, Department of Genetics, Centre Hospitalier et Universitaire de Reims, Hôpital Maison Blanche, Reims, France. Andre Megarbane, MD, PhD, is Chair, Department of Human Genetics, Gilbert and Rose-Mary Chagoury School of Medicine, Byblos, Lebanon. Afaf Minari, MD, is Infectious Diseases Specialist, Department of Internal Medicine Infectious Diseases Division, Rafic Hariri University Hospital, Beirut. Fouad El Sayed, MD, is Professor of Dermatology, Division of Dermatology, Faculty of Medicine, Lebanese University. The authors have disclosed no financial relationships related to this article. Submitted March 16, 2021; accepted in revised form May 11, 2021.
Insights
This study details prolidase deficiency (PD), a rare genetic skin disorder caused by peptidase-D gene mutations. Treatment with a proline and glycine ointment showed partial improvement in chronic leg ulcers.
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.
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 several years' duration. Sequencing of the 15 exons and of the intron/exon junction regions of the peptidase-D gene revealed the presence of a homozygous pathogenic variant c.549-1G > A. An ointment with 5% proline and 5% glycine was compounded, and the patients were instructed to apply it once daily. A follow-up visit after 8 months revealed partial improvement of the ulcerations starting from the third month of treatment. These authors hope this case report sheds light on this disease and recommend it be incorporated into the differential diagnoses of chronic leg ulcerations, particularly those starting at a young age.
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