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Congenital prolidase deficiency in two siblings: a rare case report, from jammu and kashmir, northern india

Author: 
Imran Gattoo, Khurshid Ahmad Wani, Altaf Hussain Kambay, Mumta Chauhan and Tajamul Sherrazi
Subject Area: 
Health Sciences
Abstract: 

This case report describes a pediatric patient with congenital prolidase deficiency, a rare, autosomal recessive metabolic disorder with severe dermatological manifestations, particularly ulcers of the lower extremities. While this condition has been very rarely reported with around 70 cases reported in literature till recently, it may be more common than previously acknowledged. Our case report is about a fifteen year-old girl with prolidase deficiency presenting with ulcerations on the feet and lower legs and her other sib with a similar history of recurrenr ulcerations predominantly on lower extremities. Clinical presentation and the pathogenesis of prolidase deficiency are also discussed.

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