Onset is typically during infancy, or the condition may have delayed onset.
Treatment is focused on controlling skin ulcers and avoiding complications from unhealed ulcers such as infections or amputations.
D84.1 – Defects in the complement system
360994007 – Deficiency of prolidase
Differential Diagnosis & Pitfalls
- Organic acidemias (eg, isovaleric acidemia, methylmalonic acidemia, propionic acidemia)
- Urea cycle diseases (eg, citrullinemia, argininosuccinic aciduria)
- Peroxisomal disorders (eg, Zellweger syndrome, primary hyperoxaluria type 1, adrenoleukodystrophy)
- Amino acid metabolism disorders (eg, alkaptonuria, maple syrup urine disease, homocystinuria, Hartnup disease)
- Disorders of creatine metabolism