Document Detail

Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.
MedLine Citation:
PMID:  22816431     Owner:  NLM     Status:  Publisher    
Background  Congenital erythropoietic porphyria (CEP) is an autosomal recessive cutaneous porphyria caused by decreased activity of uroporphyrinogen III synthase (UROS). Its predominant characteristics include bullous cutaneous photosensitivity to visible light from early infancy, progressive photo-mutilation and chronic haemolytic anaemia. Due to its rarity and genetic heterogeneity, clinical phenotypes are unclear and its impact on health-related quality of life (HRQoL) has not been previously assessed. Objectives  To comprehensively define CEP phenotypes and assess its impact on HRQoL and to correlate these with laboratory parameters. Methods  A single observer assessed CEP patients from four European countries. Results  Twenty seven unrelated CEP patients aged between 7.6 to 65 years participated in the study from the UK (17), France (4), Switzerland (4) and Germany (2). Additional data was obtained of two deceased patients. Newly characterised features of CEP include acute-onset cutaneous and non-cutaneous symptoms immediately following sunlight exposure and pink-erythematous facial papules. There was a lack of consistent genotype-phenotype correlation in CEP. The main poor prognostic factors in CEP are the early age of disease onset and haematological complications. Conclusions  CEP is a multi-system disease; cutaneous, ocular, oral and skeletal manifestations also contribute to disease severity and impact on HRQoL, in addition to the haematological complications. Rarity of the disease can lead to delayed diagnosis. The lack of consistent genotype-phenotype correlation in CEP suggests a contribution to phenotype from other factors, such as environment, patients' photo-protective behaviour and other non-UROS genes. There is currently an unmet need for multi-disciplinary management of patients with CEP.
R P Katugampola; M N Badminton; A Y Finlay; S Whatley; J Woolf; N Mason; J C Deybach; H Puy; C Ged; H Deverneuil; S Hanneken; E Minder; X Schneider-Yin; A V Anstey
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-7-20
Journal Detail:
Title:  The British journal of dermatology     Volume:  -     ISSN:  1365-2133     ISO Abbreviation:  -     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-7-23     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0004041     Medline TA:  Br J Dermatol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 British Association of Dermatologists.
Department of Dermatology and Wound Healing, Cardiff University, UK Department of Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff, UK INSERM U773, Centre de Recherche Biomédicale Bichat-Beaujon, Université Paris Diderot, site Bichat, 75018 Paris, France and AP-HP, Centre Français des Porphyries, Hôpital Louis Mourier, Colombre, France INSERM U1035, Bordeaux-Segalen University, Bordeaux, France Department of Dermatology, University Hospital of Dusseldorf, Germany Institute of Laboratory Medicine, Stadtspital Triemli, Zürich, Switzerland.
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