Article
Expanding the clinical and immunological phenotype of prolidase deficiency: A case report.
Pediatric dermatology - 1 Jan 2000
Basu Suprit, Barman Prabal, Das Jhumki, Kabeerdoss Jayakanthan, Attri Savita Verma, Mahajan Rahul, Vignesh Pandiarajan, Rawat Amit
Abstract excerpt
Prolidase deficiency (PD) is a rare autosomal recessive disorder associated with recurrent infections, immune dysregulation, and autoimmunity. PD is characterized by persistent dermatitis, skin fragility, and non-healing ulcerations on the lower limbs as its main dermatologic characteristics. Herein, we report a boy with PD due to a novel variant in PEPD who had abnormal facies, cognitive impairment, corneal...
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