| CASE REPORT |
|
| Year : 2017 | Volume
: 1
| Issue : 2 | Page : 69-72 |
|
|
Congenital erythropoietic porphyria: An unusual presentation
Shilpa Garg1, Priyanka Borde Bisht2, Sukriti Baveja3, Suvash Sahu4
1 Department of Dermatology, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India
2 Consultant Dermatologist, Skin City Clinic, Pune Camp, Pune, Maharashtra, India
3 Department of Dermatology, Base Hospital, Delhi Cantt, New Delhi, India
4 Resident DNB Dermatology, Base Hospital, Delhi Cantt, New Delhi, India
Correspondence Address:
Priyanka Borde Bisht
Skin City Clinic, Pune Camp, Pune, Maharashtra
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/CDR.CDR_3_17
|
|
|
Congenital erythropoietic porphyria is a rare autosomal recessive disorder of heme biosynthesis that results from the deficient activity of uroporphyrinogen III synthase. Herein, we report a case of an 8-year-old boy who presented with red-colored urine, erythrodontia, hypertrichosis, and skin fragility with minimal scarring over dorsa of the hands and tip of the nose, but without the classical history of photosensitivity, blistering, or mutilation of photo-exposed parts.
|
|
|
|
| [FULL TEXT] [PDF]* |
|
 |
|
