Prolidase deficiencyE77.8

Goodman, 1968

Rare, hereditary disorder of the enzyme prolidase and the resulting disturbances in collagen degradation.

Controversial. It is assumed that autosomal recessive heterogeneous mutations in the prolidase gene at the gene locus 19q12-q13.2 are inherited.

Mostly occurring in childhood or puberty.

Lower extremity.

Initially mostly solitary, disseminated, reddened papules or small erosions. In the further course of the disease increasing, bizarrely limited, smeary-coated ulcerations with hyperpigmented surroundings, which are almost always resistant to therapy and very painful. S.a. ulcus cruris. Mostly complex accompanying symptoms, including purpura, poikiloderma, wound healing disorders, increased sensitivity to light, canities, keratosis follicularis, intelligence disorders.

The prolidase activity in erythrocytes, fibroblasts and plasma is reduced. Hypochromic anemia and hypergammaglobulinemia often exist. Urine screening: Content of proline or hydroxyproline containing dipeptides (electrophoresis/chromatography) is increased.

Clinic, laboratory, Doppler sonography of the leg arteries, histology.

Internal and external symptomatic therapy. Trial with vitamin C (e.g. Cebion N) 400-1000 mg/day p.o. Temporarily successful in studies: apheresis of erythrocytes.