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Year : 2013  |  Volume : 58  |  Issue : 5  |  Page : 407
A case of congenital erythropoietic porphyria without hemolysis

Department of Pediatric Medicine, Medical College, Kolkata, India

Date of Web Publication30-Aug-2013

Correspondence Address:
Arun K De
Department of Pediatric Medicine, Medical College, Anandalok Housing Society, BB-50, Newtown, Kolkata
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-5154.117336

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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.

Keywords: Bullous porphyria, congenital erythropoietic porphyria, photosensitivity

How to cite this article:
De AK, Das K, Sil A, Joardar S. A case of congenital erythropoietic porphyria without hemolysis. Indian J Dermatol 2013;58:407

How to cite this URL:
De AK, Das K, Sil A, Joardar S. A case of congenital erythropoietic porphyria without hemolysis. Indian J Dermatol [serial online] 2013 [cited 2020 Jul 13];58:407. Available from:

What was known?
Congenital erythropoietic porphyria is usually associated with hemolytic anemia.

   Introduction Top

Congenital erythropoietic porphyria (CEP) or Günther's disease is a very rare form of porphyria of autosomal recessive inheritance. [1] CEP was the first human porphyria to be described and first to be related to specific enzymatic defect. [2] There are different mutations of the gene that code for the UROS. The CF3R mutation is most frequent. These mutations cause deficiency of UROS, which results in CEP. [3],[4],[5] 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. [1] We report a case of CEP with classical clinical presentation but without any feature of hemolysis.

   Case Report Top

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. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage [Figure 1]. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family.
Figure 1: Blisters in different stages of healing over the arm and forearm

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Her pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. 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]. There was no hepatosplenomegaly. 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, we reached the provisional diagnosis of CEP.
Figure 2: Copper red discoloration of the erupted teeth

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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, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. 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. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities.

   Discussion Top

CEP is an extremely rare disorderwith prevalence estimated at one in 1,000,000 or less. There is no clear racial or sexual predominance. 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. [6] Chronic damage of skin, cartilage, and bones can cause mutilation. Hypertrichosis, alopecia, and reddish-colored urine are often present. Erythrodontia (red fluorescence under ultraviolet light) when present is virtually pathognomonic of CEP. [7] Hemolytic anemia can be mild or severe, with resultant splenomegaly and osseous fragility. 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. But, strikingly there was no evidence of hemolysis. Bhutani, et al. reported the autopsy findings of a case of CEP and all the viscera showed orange-red fluorescence under wood light. [8]

Epidermolysisbullosa can mimic CEP due to presence of extensive blistering, crusting and mutilation. 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. Hepatoerythropoietic porphyria (HEP) is a close differential diagnosis. HEP is characterised by childhood onset and elevated levels of faecal or urinary isocoproporphyrin and erythrocyte Zn-protoporphyrin. [9] 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.

The only available control measure is total avoidance of sunlight. 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. The child came in follow-up on two occasions one month apart. The scarring was almost healed and no blister was there. There are very few case reports of CEP in Indian literature till date. But, CEP without hemolysis is very rare. Recently some Indian authors have reported cases with mild anemia and hypertrichosis on face. [10] In our case there was no feature of hemolysis. This unique presentation encouraged us to report such a rare case.

   Conclusion Top

High index of suspicion is needed in all cases ofcutaneous photosensitivity, red colored urine and blistering over sun-exposed areas to rule out CEP. Very rarely CEP can present without any feature of hemolytic anemia.

   References Top

1.Deybach JC, de Verneuil H, Boulechfar S, Grandchamp B, Nordmann Y. Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease). Blood 1990;75:1763-5.  Back to cited text no. 1
2.Kappas A, Sassa S, Galbraith RA, Nordmann Y. The porphyria. In: Scrivner JR, editor. The metabolic basis of inherited disease. New York, NY: McGraw Hill; 1989. p. 1301.  Back to cited text no. 2
3.Astrin KH, Warner CA, Yoo HW, Goodfellow PJ, Tsai SF, Desnick RJ. Regional assigment of the human uroporphyrinogen III synthease (UROS) gene to chromosome 10q25.2-q26.3. Hum Genet 1991;87:18-22.  Back to cited text no. 3
4.Solis C, Aizencang GI, Astrin KH, Bishop DF, Desnick RJ. Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. J Clin Invest 2001;107:753-62.  Back to cited text no. 4
5.Ged C, Megarbane H, Chouery E, Lalanne M, Megarbane A, de Verneuil H. Congenital erythropoietic porphyria: Report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling. J Invest Dermatol 2004;123:589-91.  Back to cited text no. 5
6.D'souza P, Dhamija A, Salgia P, Kothiwala RK. Mutilating congenital erythropoeitic porphyria with blindness in a farmer. Indian J Dermatol 2011;56:243-4.  Back to cited text no. 6
7.Bickers DR, Frank J. The Porphyrias. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, editors. Fitzpatrick's dermatology in general medicine. 7 th ed. New York: McGraw Hill; 2008. p. 1228-56.  Back to cited text no. 7
8.Bhutani LK, Sood SK, Das PK, Deshpande SG, Mulay DN, Kandhari KC. Congenital erythropoietic porphyria: An autopsy report. Arch Dermatol 1974;110:427-31.  Back to cited text no. 8
9.Toback AC, Sassa S, Poh-Fitzpatrick MB, Schechter J, Zaider E, Harber LC, et al. Hepatoerythropoietic porphyria: Clinical, biochemical and enzymatic studies in a three-generation family lineage. N Eng J Med 1987;316:645-50.  Back to cited text no. 9
10.Koley S, Saoji V. Congenital erythropoietic porphyria: Two case reports. Indian J Dermatol 2011;56:94-7.  Back to cited text no. 10
[PUBMED]  Medknow Journal  

What is new?
Congenital erythropoietic porphyria without hemolysis may occur.


  [Figure 1], [Figure 2]


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