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 Table of Contents  
Year : 2017  |  Volume : 1  |  Issue : 2  |  Page : 69-72

Congenital erythropoietic porphyria: An unusual presentation

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

Date of Web Publication28-Jul-2017

Correspondence Address:
Priyanka Borde Bisht
Skin City Clinic, Pune Camp, Pune, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/CDR.CDR_3_17

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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.

Keywords: Congenital erythropoietic porphyria, photosensitivity, porphyria

How to cite this article:
Garg S, Bisht PB, Baveja S, Sahu S. Congenital erythropoietic porphyria: An unusual presentation. Clin Dermatol Rev 2017;1:69-72

How to cite this URL:
Garg S, Bisht PB, Baveja S, Sahu S. Congenital erythropoietic porphyria: An unusual presentation. Clin Dermatol Rev [serial online] 2017 [cited 2023 Jan 30];1:69-72. Available from: https://www.cdriadvlkn.org/text.asp?2017/1/2/69/211781

  Introduction Top

Congenital erythropoietic porphyria (CEP) occurs due to the deficiency of enzyme uroporphyrinogen III synthase with a prevalence estimated to be 1 in 1,000,000 or less.[1] This deficiency leads to excessive accumulation of uroporphyrin (URO I) and coproporphyrin (COPRO I) in red blood cells, plasma, skin, teeth, bones, and other organs.[2] The disease usually presents with marked photosensitivity, hypertrichosis, blistering, scarring, dyspigmentation, mutilation, chronic hemolysis, erythrodontia, and porphyrinuria.

  Case Report Top

An 8-year-old boy, resident of Uttar Pradesh, born of second-degree (parents being first cousins) consanguineous marriage, presented with red-colored urine since birth followed by eruption of reddish deciduous teeth around the age of 6 months. The permanent teeth which appeared later were also reddish. Over the years, the child developed excessive hair growth over the face and upper limbs. For the past 1 year, the child had been experiencing skin fragility healing with mild scarring over tip of the nose and dorsa of both hands, though no new lesions have occurred over the past 6 months. For the past 6 months, normal-colored urine has been noticed by mother on few occasions. Parents have not noticed photosensitivity or blistering all these years and the child has been quite comfortable being exposed to sunlight even for long hours. He had achieved all mental and physical milestones on time. There were no complaints of abdominal pain or seizures or similar history in the family.

General and systemic examination was unremarkable. Dermatological examination revealed hyperpigmentation and hypertrichosis which were present on the face involving the forehead, cheeks, and chin with relative sparing of the periorbital, nose, perinasal, and perioral areas [Figure 1] and [Figure 2]. Hypertrichosis was present involving both the arms with hyperpigmentation involving dorsum of both hands [Figure 3]. Mild scarring was seen on the tip of nose [Figure 4] and dorsa of both hands, especially involving the metacarpophalangeal joints [Figure 5]. Erythrodontia was seen involving all the teeth [Figure 6]. The urine sample was reddish-burgundy [Figure 7]. The teeth and urine showed pinkish-red fluorescence on Wood's lamp examination. Complete blood count and peripheral blood smear showed normal picture; hemoglobin - 13.1 mg/dl, hematocrit - 39%, total leukocyte count - 7400, and platelet count - 1.6 lac/cumm. On spectrophotometry, urinary total porphyrin level was 890 nmol/mmol of creatinine (normal <35 nmol/mmol) with significantly elevated levels of 24 h urinary and fecal levels of URO I and COPRO I, respectively. The erythrocyte porphyrin level was 107.5 mcg/100 ml (normal value <40 mcg/100 ml). Serum ferritin levels were within normal range: 330 ng/ml. Ultrasonography of the abdomen showed mild splenomegaly. Other hematological and biochemical investigations did not reveal any abnormality. X-rays of the extremities did not show any bony changes. Histopathology showed subepidermal blistering with coarse collagen [Figure 8] and [Figure 9] though the patient neither had any history of blistering, nor they were seen on examination. A genetic mutation for appearance of milder phenotype was suspected, but genetic studies could not be performed due to unavailability and the parents could not afford to get them done on their own. A final diagnosis of CEP was made. The child and the parents were counseled regarding the disease and advised to come for a regular follow-up every 2 months if worsening of symptoms occurs, for example, blistering/ulcers over photo-exposed areas or seizures. The child was asked to use topical sunscreens and follow absolute sun protection even if he is comfortable in the sunlight. Treatment options such as splenectomy and bone marrow transplantation, if the need arises, were discussed with parents. No worsening of symptoms or occurrence of new symptoms was noticed on 2 months' follow-up.
Figure 1: Hyperpigmentation and hypertrichosis present on face with relative sparing of the periorbital, nose, perinasal and perioral area

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Figure 2: Hyperpigmentation and hypertrichosis present on face with relative sparing of the periorbital, nose, perinasal and perioral area

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Figure 3: Hypertrichosis involving both arms with hyperpigmentation on dorsum of both hands

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Figure 4: Mild scarring on the tip of nose

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Figure 5: Mild scarring on dorsum of both hands especially on the joints

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Figure 6: Erythrodontia involving all teeth

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Figure 7: Reddish burgundy coloured urine

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Figure 8: Subepidermal blistering with coarse collagen (H&E, 10x)

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Figure 9: Subepidermal blistering with coarse collagen (H&E, 4X)

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  Discussion Top

CEP is a rare genetic disorder with <500 reported cases worldwide.[2] The first sign of CEP is noticed often during the 1st month of child's birth, with pinkish-brown-colored urine and later development of erythrodontia. Clinical manifestations vary from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to late-onset cutaneous photosensitivity being the only symptom. Severe cutaneous photosensitivity causes blistering and recurrent wound formation. Delayed healing leads to disfigurement and mutilation of the digital tips, nose, or ears, while corneal scarring leads to blindness. Hypertrichosis, hyperpigmentation, and milia formation are also commonly seen on photo-exposed areas. Squamous cell carcinomas over the distal ends have been reported with resorption of digits. Large amounts of porphyrins are excreted in stools and urine, which make the urine brownish-burgundy (porphynuria) with pinkish fluorescence on Wood's lamp examination. Similarly, red-brownish teeth with porphyrins also emit pinkish fluorescence. In the bones, fragility and resorption of terminal phalanges may develop.

The diagnosis of CEP is supported by the biochemical findings of markedly decreased uroporphyrinogen synthase activity in erythrocytes and/or markedly increased levels of urinary URO I and COPRO I isomers. The diagnosis is confirmed most commonly by the presence of biallelic UROS mutations or by the identification of a hemizygous mutation in the X-linked gene GATA1.[3]

Epidermolysis bullosa forms a close differential for CEP due to the presence of extensive blistering, crusting, and mutilation. Pseudoporphyria, a drug-induced bullous disorder with photosensitivity, also mimics CEP. However, in both these disorders, the porphyrin levels in urine, plasma, and feces are not raised. Hepatoerythropoietic porphyria, characterized by childhood onset and elevated levels of fecal or urinary isocoproporphyrin and erythrocyte Zn-protoporphyrin, is also a close differential diagnosis to CEP. Our case, though presented with mild symptoms, had onset in infancy. Other photodermatoses very rarely cause inflammation severe enough to produce cutaneous blisters. Absolute sun avoidance is needed to control the disease activity. Treatment options include topical sunscreens, oral beta carotene, activated charcoal, cholestyramine, erythrocyte transfusions, and splenectomy. Current first-line treatment for CEP is allogeneic bone marrow transplantation and has been curative in few patients.[4]

Ali et al. have reported mild phenotypic presentation of CEP in patients with genotype-76A/G225S where a 16-year-old boy and his 4-year-old brother presented with skin fragility, blistering, and erosions of sun-exposed areas present since early childhood with discoloration of urine, but had no associated joint or neuropsychiatric symptoms of anemia and hemolysis.[5] A 47-year-old woman who first presented in her late 20s with mild cutaneous photosensitivity and a family history suggesting atopic dermatitis inheritance, and urine, blood, and stool porphyrin levels consistent with CEP, showed germline compound heterozygosity for a common CEP missense mutation (C73R) and a novel missense change (R138H) as reported by Gustafson et al.[6] Cutaneous signs of CEP developing 5 years after the onset of symptomatic thrombocytopenia are described in a 65-year-old male by Murphy et al.[7]

To the best of our knowledge, the reported cases of CEP in Indian literature have shown severe symptoms including blistering and mutilation.[8],[9] Our patient presented with a mild form of CEP and was absolutely comfortable on sun exposure, even when exposed for long hours, which is very uncommon. There was no history of blistering, mutilations, or systemic involvement. Paucity of the data in Indian literature and uncommon presentation of this rare disease prompted us to publish this case report.

  Conclusion Top

CEP, a rare genetic disease, which is known to be the most mutilating of the porphyrias, can present in a mild form and without its characteristic photosensitivity, blistering, and mutilations.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

This study was financially supported by the Department of Dermatology, Base Hospital, Delhi Cantt, New Delhi, India.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Thadani H, Deacon A, Peters T. Diagnosis and management of porphyria. BMJ 2000;320:1647-51.  Back to cited text no. 1
Wolft K, Goldsmith LA, Katz SI. The porphyrias. In: Wolff K editor, Fitzpatrick's dermatology in general medicine, 7th ed. USA: The McGraw-Hill companies; 2008. p. 1233-34.  Back to cited text no. 2
Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH. Molecular genetics of congenital erythropoietic porphyria. Semin Liver Dis 1998;18:77-84.  Back to cited text no. 3
Thomas C, Ged C, Nordmann Y, de Verneuil H, Pellier I, Fischer A, et al. Correction of congenital erythropoietic porphyria by bone marrow transplantation. J Pediatr 1996;129:453-6.  Back to cited text no. 4
Ali B, Nallamothu P, Lim H. Mild phenotypic presentation of congenital erythropoietic porphyria in patients with genotype-76A/G225S. J Am Acad Dermatol 2005;52:162.  Back to cited text no. 5
Gustafson S, Lichtin A, Astrin K, Eng C. Adult Onset Congenital Erythropoietic Porphyria, an Extra Challenge in the Diagnosis of Porphyria. Available from: http://www.ashg.org/genetics/ashg07s/f10285.htm. [Last accessed on 2016 Sep 17].  Back to cited text no. 6
Murphy A, Gibson G, Elder GH, Otridge BA, Murphy GM. Adult-onset congenital erythropoietic porphyria (Günther's disease) presenting with thrombocytopenia. J R Soc Med 1995;88:357P-8P.  Back to cited text no. 7
De AK, Das K, Sil A, Joardar S. A case of congenital erythropoietic porphyria without hemolysis. Indian J Dermatol 2013;58:407.  Back to cited text no. 8
[PUBMED]  [Full text]  
Pandey M, Mukherjee SB, Patra B, Kapoor S, Ged C, Aneja S, et al. Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options. J Pediatr Hematol Oncol 2013;35:e167-70.  Back to cited text no. 9


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]


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