Home About us Editorial board Ahead of print Current issue Archives Submit article Instructions Subscribe Search Contacts Login 
  • Users Online: 532
  • Home
  • Print this page
  • Email this page
CASE REPORT
Year : 2016  |  Volume : 28  |  Issue : 1  |  Page : 34-38

Congenital erythropoietic porphyria or Günther's disease along with a rare mandibular adenomatoid odontogenic tumor


Department of Oral Medicine and Radiology, Bharati Vidyapeeth Deemed University Dental College and Hospital, Sangli, Maharashtra, India

Correspondence Address:
Kaushal Mahendra Shah
Department of Oral Medicine and Radiology, Bharati Vidyapeeth Deemed University Dental College and Hospital, Wanlesswadi, Sangli-Miraj Road, Sangli - 416 414, Maharashtra
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-1363.189977

Rights and Permissions

Congenital erythropoietic porphyria (CEP), or “Günther disease,” is a rare variant of porphyria. It is an autosomal recessive disease caused by deficient uroporphyrinogen III synthase (URO-III-synthase), the fourth enzyme in the heme biosynthetic pathway. We report a case of a young female with the typical clinical presentations of cutaneous photosensitivity characterized by hyper- and hypo-pigmentations, blister formations and scarring of light-exposed skin, mutilation of the toe fingers, dark-purple urine and erythrodontia with pinkish fluorescence under a Wood's lamp. The diagnosis was confirmed by decreased activity of URO-III-synthase in red blood cells and a porphyrin profile compatible with CEP. Presence of adenomatoid odontogenic tumor associated with impacted mandibular right canine was also noted.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed2457    
    Printed39    
    Emailed0    
    PDF Downloaded200    
    Comments [Add]    

Recommend this journal