Document Detail

Erythropoietic Protoporphyria (Erythrohepatic Protoporphyria).
MedLine Citation:
PMID:  17509112     Owner:  NLM     Status:  Publisher    
An 8-year-old Caucasian girl had recurrent swelling, itching, burning, and painful sensations in her face and hands since 12 months of age. This reaction occurred after sunlight exposure and to a lesser extent with heat and wind. On physical examination the patient demonstrated mild focal thickening of the skin of the nose and upper lip and dorsa of the hands and toes. Laboratory studies were notable for a high free erythrocyte protoporphyrin level, which is diagnostic for erythropoietic protoporphyria (Erythropoietic Protoporphyria Research and Educational Fund. Available at Erythropoietic protoporphyria is a rare genetic disorder of porphyrin metabolism caused by impaired activity of ferrochelatase. The mainstay of therapy is photosensitivity reduction through the use of reflectant sunscreens and beta-carotene administration.
Susan C Kelly; Stephen M Purcell; Thomas D Griffin
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2007-4-8
Journal Detail:
Title:  Pediatric dermatology     Volume:  -     ISSN:  1525-1470     ISO Abbreviation:  Pediatr Dermatol     Publication Date:  2007 Apr 
Date Detail:
Created Date:  2007-5-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Dermatology, Lehigh Valley Hospital/Philadelphia College of Osteopathic Medicine, Allentown, Pennsylvania.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Autosomal recessive cutis laxa in two siblings associated with blue sclera.
Next Document:  Ehlers–Danlos syndrome and anorexia nervosa: a dangerous combination?