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Background <p>Prolidase deficiency is a rare autosomal recessive metabolic disorder resulting from mutations in the <i>PEPD</i> gene, leading to impaired collagen turnover and a broad spectrum of clinical features. Its manifestations include recurrent ulcerative skin lesions, recurrent infections, and hematological abnormalities. Celiac disease, another multisystem disorder, presents with chronic diarrhea, malabsorption, and iron deficiency anemia. The coexistence of both conditions is exceedingly rare and may lead to diagnostic delays.</p> Case presentation <p>We report the case of an 18-year-old male individual of Asian Indian ethnicity from a rural background with lifelong ulcerative skin lesions, recurrent infections, and chronic diarrhea. At age 15 years, he was diagnosed with iron deficiency anemia, requiring multiple blood transfusions. Investigations revealed raised anti-tissue transglutaminase antibodies and villous atrophy on duodenal biopsy, confirming celiac disease. Despite gluten-free diet initiation, his symptoms persisted. Clinical exome sequencing revealed a homozygous pathogenic splice site mutation (c.504-2A &gt; G) in the <i>PEPD</i> gene, confirming prolidase deficiency. The patient was treated with dietary modifications, iron, vitamin C, manganese supplementation, and oral <span>l</span>-proline powder. Significant healing of skin ulcers and hematological improvement were noted at 6&#xa0;months.</p> Conclusion <p>This case underscores the importance of considering rare metabolic disorders such as prolidase deficiency in patients with chronic skin lesions, infections, and pancytopenia. Early genetic testing and multidisciplinary management are essential when faced with overlapping clinical features.</p>

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Challenging diagnosis: prolidase deficiency presenting as nonhealing ulcers and pancytopenia complicated by gluten enteropathy—a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月9日

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  • Viplove Gupta,
  • Vaibhav Yadav,
  • Ved Prakash Pandey,
  • Sanjay Dubey,
  • Yogendra Jamra,
  • Akash Pawar

摘要

Background

Prolidase deficiency is a rare autosomal recessive metabolic disorder resulting from mutations in the PEPD gene, leading to impaired collagen turnover and a broad spectrum of clinical features. Its manifestations include recurrent ulcerative skin lesions, recurrent infections, and hematological abnormalities. Celiac disease, another multisystem disorder, presents with chronic diarrhea, malabsorption, and iron deficiency anemia. The coexistence of both conditions is exceedingly rare and may lead to diagnostic delays.

Case presentation

We report the case of an 18-year-old male individual of Asian Indian ethnicity from a rural background with lifelong ulcerative skin lesions, recurrent infections, and chronic diarrhea. At age 15 years, he was diagnosed with iron deficiency anemia, requiring multiple blood transfusions. Investigations revealed raised anti-tissue transglutaminase antibodies and villous atrophy on duodenal biopsy, confirming celiac disease. Despite gluten-free diet initiation, his symptoms persisted. Clinical exome sequencing revealed a homozygous pathogenic splice site mutation (c.504-2A > G) in the PEPD gene, confirming prolidase deficiency. The patient was treated with dietary modifications, iron, vitamin C, manganese supplementation, and oral l-proline powder. Significant healing of skin ulcers and hematological improvement were noted at 6 months.

Conclusion

This case underscores the importance of considering rare metabolic disorders such as prolidase deficiency in patients with chronic skin lesions, infections, and pancytopenia. Early genetic testing and multidisciplinary management are essential when faced with overlapping clinical features.