Clinical features
- Skin lesions characterized by severe, chronic, recalcitrant, and painful skin ulcers in the lower extremities
- Recurrent infections
- Dysmorphic facial features
- Variable intellectual disability
- Hepatomegaly with elevated liver enzymes and splenomegaly
- Anemia, thrombocytopenia, hypergammaglobulinemia, and hypocomplementemia are common
- An association between Systemic Lupus Erythematosus (SLE) and Prolidase Deficiency has been described
Prevalence
Approximately 100 affected individuals have been reported in the literature, however Prolidase Deficiency likely remains underdiagnosed as a result of under-recognition by physicians.
Inheritance
Prolidase Deficiency is inherited in an autosomal recessive manner.