A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency.
Ankara, Turkey. In Int J Low Extrem Wounds, Jan 2016
UNASSIGNED: Prolidase deficiency is an autosomal recessive disorder, which is associated with chronic skin ulcers, a characteristic facial appearance, mental retardation, and recurrent infections.
Differential Diagnosis of Genetic Disorders Associated with Moderate to Severe Refractory Eczema and Elevated Immunoglobulin E.
Cadiz, Spain. In Actas Dermosifiliogr, Jan 2016
UNASSIGNED: The association of moderate to severe eczema and elevated plasma levels of immunoglobulin E is a characteristic not only of atopic dermatitis but also of various genodermatoses: hyperimmunoglobulin E syndromes, Omenn syndrome, Netherton syndrome, peeling skin syndrome type B, severe dermatitis, multiple allergies, and metabolic wasting syndrome, Wiskott-Aldrich syndrome, prolidase deficiency, Loeys-Dietz syndrome, IPEX syndrome, STAT5B deficiency, and pentasomy X.
Seattle, United States. In Unknown Journal, Jul 2015
DIAGNOSIS/TESTING: The diagnosis of prolidase deficiency is established by detection of either biallelic PEPD pathogenic variants or reduced prolidase enzyme activity in a proband who has characteristic clinical findings and imidodipeptiduria.
A photographic essay of prolidase deficiency.
Melbourne, Australia. In Clin Dysmorphol, 2011
Prolidase deficiency is a rare inherited connective tissue disorder characterised by intractable skin ulceration, lymphoedema, recurrent infections and mild intellectual impairment.
Current Insights into the role of HIF-1 in cutaneous wound healing.
Baltimore, United States. In Curr Mol Med, 2011
Studies on the effect of HIF-1 on the expression and activity of extracellular cell matrix modifying enzymes, such as MMPs and prolidase, have been conducted in the context of tumor angiogenesis and metastasis, and have resulted in controversial findings.