Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of uroporphyrinogen III synthase (UROS). We describe a 14-year-old girl with red urine since infancy, progressive blistering and scarring of the skin, and moderate hemolytic anemia. After years of skin damage, her face is mutilated; she has a bald patch on the scalp, hypertrichosis of the neck, areas of skin darkening, and limited joint movements of the hands. Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. Sequencing of the UROS gene identified two mutations causing CEP (Cys73Arg, Thr228Met). The patient lesions are progressing. Bone marrow transplantation and/or gene therapy are proposed as the next steps in her treatment. In brief, we describe a CEP with confirmed two pathogenic mutations, severe phenotype and discuss the various treatment options available.

Scurvy, a disease of dietary deficiency of vitamin C, was uncommon in the last century due to improved nutrition and health care. However, in the last decade it was increasingly reported in adult population. In a period of infancy, scurvy appears after the age of five months and is related mainly to malnutrition. The main symptoms are vascular purpura, bleeding and gum abnormalities, but musculoskeletal manifestations could also be prominent. Children experience severe lower limb pain related to subperiosteal bleeding. The misdiagnosis with rickets and arthritis is common. We present a case of scurvy in 8 month boy with osteoskeletal manifestation, very rare seen in contemporary European pediatrics. The diagnosis of our patient is made by clinical presentation (such as haematuria, edema of lower extremities as well as swollen right leg), some biochemical parameters and radiological finding. The therapeutically outcome and follow-up of the boy confirmed the diagnosis and etiology.