| Literature DB >> 26637345 |
Esra Adışen1, Funda Bapur Erduran2, Fatih Süheyl Ezgü1, Çiğdem Seher Kasapkara1, Roberta Besio3, Antonella Forlino3, Mehmet Ali Gürer1.
Abstract
Prolidase deficiency is an autosomal recessive disorder, which is associated with chronic skin ulcers, a characteristic facial appearance, mental retardation, and recurrent infections. This study describes 4 patients with recurrent leg ulcerations and abnormal facies who were first clinically suspected of prolidase deficiency and then biochemically confirmed. Two siblings and 2 other patients were admitted to our clinic at different times, and they had some common features such as chronic leg and foot ulcers recalcitrant to treatment, consanguineous parents, facial dysmorphism, mental retardation, and widespread telangiectasias. Physical examination and detection of low prolidase level in blood finally led us to the diagnose of ulcers secondary to prolidase deficiency. Prolidase deficiency is a rare genodermatosis and must be considered in the differential diagnosis of recurrent leg and foot ulcers that develop at an early age.Entities:
Keywords: extremity ulcers; prolidase deficiency; recalcitrant; telangiectasias
Mesh:
Year: 2015 PMID: 26637345 DOI: 10.1177/1534734615619550
Source DB: PubMed Journal: Int J Low Extrem Wounds ISSN: 1534-7346 Impact factor: 2.057