At 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.
Adv Skin Wound Care. 2021 Nov 1;34(11):1-4. doi: 10.1097/01.ASW.0000792912.44120.64.
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.
脯肽酶缺乏症（PD）是一种罕见的常染色体隐性遗传皮肤病，具有多种临床表现。它是由于肽酶-D 基因突变导致脯肽酶活性异常，而脯肽酶是胶原代谢中的重要酶。作者报告了两例具有畸形特征、血液指标异常和多年难治性腿部溃疡的同胞病例。对肽酶-D 基因的 15 个外显子和内含子/外显子连接区进行测序，发现存在纯合致病性变异 c.549-1G > A。配制了含有 5%脯氨酸和 5%甘氨酸的软膏，并指导患者每天使用一次。8 个月后的随访显示，治疗 3 个月后溃疡开始部分改善。作者希望本病例报告能阐明该疾病，并建议将其纳入慢性腿部溃疡的鉴别诊断，特别是那些在年轻时发病的溃疡。
