Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report.

Congenital erythropoietic porphyria (CEP), or Gunther disease, is a rare genetic disease responsible for severe dermatologic, hepatic and/or haematological damages related to the deficient activity of the uroporphyrinogen III synthase. Allogeneic stem cell transplantation (Allo-SCT) represents the only curative treatment and few allotransplanted cases have been reported in children but not in adults. Here we report for the first time the successful cure of a 46-year old man with CEP with a 5-year follow-up after Allo-SCT.

Long-term benefits of a therapeutic make-up consultation for patients with various facial dermatoses.

BACKGROUND: Therapeutic make-up has previously been proven to be efficacious in improving the quality of life of patients with facial dermatoses, but its efficacy has only been assessed in the short term (less than one month). OBJECTIVES: This study aimed to determine whether the effect of therapeutic make-up on patients' quality of life persists in the longer term, i.e., after one year. MATERIALS & METHODS: This study included 53 patients who benefited from a therapeutic make-up consultation in the context of various facial dermatoses (pigmentation disorders, scars, acne, rosacea, eczema, adverse events of chemotherapy, etc.). Patients were asked to complete a quality-of-life questionnaire to obtain the Skindex score at baseline, and one month (M1) and one year (M12) after the first consultation. The difference in scores between baseline and M12 was calculated and Student's t-test was used to assess the significance of the values. RESULTS: Our results showed a significant difference (p<0.001) with an improvement in quality-of-life score by more than 10% between baseline and M12, for all the dimensions of the score (Emotion, Symptoms and Functioning). Based on the subgroup analysis, this score particularly improved for patients suffering with acne or rosacea (p=0.009) and scars (p=0.43), as well as for younger patients (<30 years old) (p=0.009). CONCLUSION: This is the first study to demonstrate a persistent long-term effect of therapeutic make-up on the quality of life of patients with facial dermatoses.