| CASE REPORT |
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| Year : 2016 | Volume
: 28
| Issue : 1 | Page : 34-38 |
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Congenital erythropoietic porphyria or Günther's disease along with a rare mandibular adenomatoid odontogenic tumor
Kaushal Mahendra Shah, Amol Karagir, Shridevi Adaki
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
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0972-1363.189977
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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. |
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