Congenital erythropoietic porphyria or Günther's disease along with a rare mandibular adenomatoid odontogenic tumor
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...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2016-01-01
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| Series: | Journal of Indian Academy of Oral Medicine and Radiology |
| Subjects: | |
| Online Access: | http://www.jiaomr.in/article.asp?issn=0972-1363;year=2016;volume=28;issue=1;spage=34;epage=38;aulast=Shah |
| _version_ | 1818515468998148096 |
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| author | Kaushal Mahendra Shah Amol Karagir Shridevi Adaki |
| author_facet | Kaushal Mahendra Shah Amol Karagir Shridevi Adaki |
| author_sort | Kaushal Mahendra Shah |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-11T00:29:15Z |
| format | Article |
| id | doaj.art-ef78e02287304a8a9c792f76adf348fe |
| institution | Directory Open Access Journal |
| issn | 0972-1363 0975-1572 |
| language | English |
| last_indexed | 2024-12-11T00:29:15Z |
| publishDate | 2016-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Indian Academy of Oral Medicine and Radiology |
| spelling | doaj.art-ef78e02287304a8a9c792f76adf348fe2022-12-22T01:27:25ZengWolters Kluwer Medknow PublicationsJournal of Indian Academy of Oral Medicine and Radiology0972-13630975-15722016-01-01281343810.4103/0972-1363.189977Congenital erythropoietic porphyria or Günther's disease along with a rare mandibular adenomatoid odontogenic tumorKaushal Mahendra ShahAmol KaragirShridevi AdakiCongenital 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.http://www.jiaomr.in/article.asp?issn=0972-1363;year=2016;volume=28;issue=1;spage=34;epage=38;aulast=ShahAdenomatoid odontogenic tumorautosomal recessivecongenitalerythrodontiaporphyria |
| spellingShingle | Kaushal Mahendra Shah Amol Karagir Shridevi Adaki Congenital erythropoietic porphyria or Günther's disease along with a rare mandibular adenomatoid odontogenic tumor Journal of Indian Academy of Oral Medicine and Radiology Adenomatoid odontogenic tumor autosomal recessive congenital erythrodontia porphyria |
| title | Congenital erythropoietic porphyria or Günther's disease along with a rare mandibular adenomatoid odontogenic tumor |
| title_full | Congenital erythropoietic porphyria or Günther's disease along with a rare mandibular adenomatoid odontogenic tumor |
| title_fullStr | Congenital erythropoietic porphyria or Günther's disease along with a rare mandibular adenomatoid odontogenic tumor |
| title_full_unstemmed | Congenital erythropoietic porphyria or Günther's disease along with a rare mandibular adenomatoid odontogenic tumor |
| title_short | Congenital erythropoietic porphyria or Günther's disease along with a rare mandibular adenomatoid odontogenic tumor |
| title_sort | congenital erythropoietic porphyria or gunther s disease along with a rare mandibular adenomatoid odontogenic tumor |
| topic | Adenomatoid odontogenic tumor autosomal recessive congenital erythrodontia porphyria |
| url | http://www.jiaomr.in/article.asp?issn=0972-1363;year=2016;volume=28;issue=1;spage=34;epage=38;aulast=Shah |
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