congenital erythropoietic porphyria is usually associated with hemolytic anemia . congenital erythropoietic porphyria ( cep ) or cep was the first human porphyria to be described and first to be related to specific enzymatic defect . major clinical manifestations are severe cutaneous photosensitivity and blistering that exacerbates on exposure to sunlight along with features of chronic hemolysis and massive porphyrinuria ( characterized by red colored urine ) . these are due to accumulation of predominantly type 1 porphyrin in erythrocytes , bone marrow , skin , teeth ( characterized by erythrodontia ) , bones and other organs . we report a case of cep with classical clinical presentation but without any feature of hemolysis . an eleven month old female child , born of a primigravida mother of non - consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age . blisters in different stages of healing over the arm and forearm her pulse rate was 102/min , blood pressure was 84/58 mm of hg . her weight was 7.9 kg , length was 70 cm and head circumference was 45 cm . blisters were present on scalp , face , upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia . copper - red discoloration of the two erupted teeth was noted [ figure 2 ] . neurological examination was normal . on the basis of infancy - onset blistering over sun - exposed areas , atrophic scars , red colored urine and teeth without neurological involvement and evidence of arthritis copper red discoloration of the erupted teeth complete blood count showed mild anemia ; hb-9.2 mg / dl , total leucocyte count-8,200 and platelet count of 1.4 lac / cumm . on peripheral smear anemia was microcytic , hypochromic in type . but , on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol / mmol of creatinine ( normal < 35 nmol / mmol ) . twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated . the erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method ( normal value < 40 mcg/100 ml ) . bright red fluorescence was also noted in the urine , teeth and blood under wood 's lamp . demonstration of deficiency of uros activity and genetic study could not be performed due to lack of laboratory facilities . the inheritance of two mutant alleles for the gene encoding the enzyme uroporphyrinogen iii synthase leads to accumulation of porphyrins thatcause cutaneous photosensitivity characterized by blisters , erosions , and scarring of light - exposed skin . the disease can be detected in utero by measuring porphyrins in amniotic fluid and uros activity in cultured amniotic cells or chorionic villi . clinical manifestations can vary from mild to severe grade , starting from non - immune hydropsfoetalis as a result of severe hemolytic anemia in - utero to late onset clinical cases where the only symptom is cutaneous photosensitivity in adulthood . an indian adult with cep was reported with photosensitivity , severe acral mutilation and blindness . erythrodontia ( red fluorescence under ultraviolet light ) when present is virtually pathognomonic of cep . photoactivity of porphyrins causes bright pink fluorescence of this pigments in urine . in our case there was cutaneous photosensitivity , infancy - onset blistering , red - colored urine and teeth along with cutaneous scarring . bhutani , et al . reported the autopsy findings of a case of cep and all the viscera showed orange - red fluorescence under wood light . pseudoporphyria , a drug induced bullous disorder with photosensitivity , is closely similar to cep . however , in both of them the porphyrin levels in urine , plasma and faeces are not raised . in most other photodermatoses inflammation is not severe enough to that extent to produce cutaneous blisters . hep is characterised by childhood onset and elevated levels of faecal or urinary isocoproporphyrin and erythrocyte zn - protoporphyrin . but in our case of cep the blister and photosensitivity were of infancy onset and there was increased level of faecal and urinary copro and uroporphyrin along with elevated erythrocyte porphyrin . topical sunscreen lotion , oral beta - carotene and sometimes splenectomy are the treatment options . stem cell transplantation is the only permanent curative option . in our case , we advised strict avoidance of sunlight and prescribed topical sunscreen lotion of high sun protection factor with oral beta - carotene . recently some indian authors have reported cases with mild anemia and hypertrichosis on face . in our case high index of suspicion is needed in all cases ofcutaneous photosensitivity , red colored urine and blistering over sun - exposed areas to rule out cep .
porphyrias are group of disorders caused by deficiency of the enzymes in heme synthetic pathway . 
 congenital erythropoietic porphyria ( cep ) is an extremely rare disease with mutation in the gene that codes for uroporphyrinogen iii synthase leading to accumulation of porphyrin in different tissues and marked cutaneous photosensitivity . here 
 , we describe a case of cep with infancy onset blistering , photosensitivity , red colored urine and teeth along with scarring but without any feature of hemolysis .