Congenital erythropoietic porphyria (CEP), a rare form of porphyria, is caused by a defect in the heme biosynthesis pathway of the enzyme uroporphyrinogen III synthase (UROS). Uroporphyrinogen III synthase deficiency leads to an accumulation of nonphysiological porphyrins in bone marrow, red blood cells, skin, bones, teeth, and spleen. Consequently, the exposure to sunlight causes severe photosensitivity, long-term intravascular hemolysis, and eventually, irreversible mutilating deformities. Several supportive therapies such as strict sun avoidance, physical sunblocks, red blood cells transfusions, hydroxyurea, and splenectomy are commonly used in the management of CEP. Currently, the only available curative treatment of CEP is hematopoietic stem cell transplantation (HSCT). In this article, we present a young girl in which precocious genetic testing enabled early diagnosis and allowed curative treatment with HSCT for CEP at the age of 3 months of age, that is, the youngest reported case thus far.

Introduction Persons with inherited bleeding disorders are at a substantial risk of bleeding following dental procedures. Aim To compare the outcomes and use of haemostatic treatment pre‐ and post‐implementation of a standardized protocol for dental procedures at a Hemophilia Treatment Centre. Methods We conducted a retrospective cohort study of outpatient and inpatient dental procedures and maxillofacial surgeries sustained by people with bleeding disorders treated at a comprehensive Hemophilia Treatment Centre (2013‐2020), comparing patients’ outcomes before and after the introduction of the protocol in 2018. The protocol, built using a multidisciplinary approach, suggested haemostatic treatment based on the invasiveness of the dental procedure and the proposed anaesthesia. Our primary outcome was the rate of procedural bleeding leading to medical or dental reintervention within 10 days. Secondary outcomes included the use of systemic haemostatic treatment and treatment‐related adverse effects. Results Overall, 137 dental procedures in 95 patients (median age: 29 years; 78% males; 74% haemophilia, 14% von Willebrand disease, 12% other disorders) were included. Seventeen procedural bleedings were reported (12.4%). Procedural bleeding occurred in 14.8% and 8.9% of patients in the control and intervention groups (p = .304). No major bleeding occurred. Tranexamic acid was used more consistently after protocol implementation (72.8% vs. 89.3%, p = .019), while factor concentrates use decreased (65.4% vs. 44.6%, p = .016), and desmopressin use remained constant (46.4% vs. 32.1%, p = .100). No treatment‐related adverse effects were reported. Conclusion The use of a standardized protocol increased the use of tranexamic acid, with a nonstatistically significant reduction in procedural bleeding rate.