Case report
Congenital Erythropoietic Porphyria (CEP): A rare disease
Author Details
1. Associate Professor, Department of Dermatology and Venereology, Bangabandhu Sheikh Mujib Medical university (BSMMU), Shahbag, Dhaka-1000, Bangladesh
2. Resident, MD (Phase-B), Department of Dermatology and Venereology, Bangabandhu Sheikh Mujib Medical university (BSMMU), Shahbag, Dhaka-1000, Bangladesh
3. Professor, Department of Dermatology and Venereology, Bangabandhu Sheikh Mujib Medical university (BSMMU), Shahbag, Dhaka-1000, Bangladesh.
4. Resident, MD (Phase-B), Department of Dermatology and Venereology, Bangabandhu Sheikh Mujib Medical university (BSMMU), Shahbag, Dhaka-1000, Bangladesh
Abstract Congenital Erythropoietic porphyria (CEP or Gunther disease) is a rare autosomal recessive inborn error of heme biosynthesis with a mutation in the gene that codes for uroporphyrinogen III synthase (UROS), resulting in severe loss of activity of UROS and elevations of uroporphyrin I and coproporphyrin I. This deficiency is associated with the accumulation of porphyrins and porphyrin precursors in the erythrocytes, plasma, and urine which, in turn, causes blistering over sun-exposed areas and chronic severe photosensitivity. Here, we reported a 10-year-old boy, born of parents of consanguinous marriage presented with recurrent blistering over sun-exposed skin from the age of 2 and reddish urine from birth. There was erythrodontia, hyperpigmentation, atrophic scarring, hypertrichosis predominantly in the face and extremities, and deformities of fingers. Bright red fluorescence was noted in the urine and teeth under the wood's lamp. Histopathology revealed subepidermal bulla. Based on history, clinical examinations, wood lamp examination, and histopathology we diagnosed the case as congenital erythropoietic porphyria. We recommended absolute photoprotection, using high sun protection factor sunscreens, vitamin D supplementation to compensate for the lack of sun exposure, and psychotherapy to minimize the psychosocial impact. Keywords: Congenital Erythropoietic Porphyria, Uroporphyrinogen III synthase (UROS), Cutaneous
blistering, Subepidermal bulla |
Keywords: Congenital Erythropoietic Porphyria, Uroporphyrinogen Iii Synthase (Uros), Cutaneous Blistering, Subepidermal Bulla