Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login 
Home Print this page Email this page Small font size Default font size Increase font size Users Online: 112

 Table of Contents  
Year : 2019  |  Volume : 20  |  Issue : 2  |  Page : 141-144

Congenital erythropoietic porphyria in an Indian Child

Department of Dermatology and STD, University College of Medical Sciences and GTB Hospital (University of Delhi), New Delhi, India

Date of Web Publication29-Mar-2019

Correspondence Address:
Prof. Archana Singal
Department of Dermatology and STD, University College of Medical Sciences and GTB Hospital (University of Delhi), New Delhi - 110 095
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_67_18

Rights and Permissions

Congenital Erythropoetic Porphyria (CEP) also called the “Günther disease”, is a rare variant of porphyria. It is caused by the deficiency of uroporphyrinogen III synthase (URO-III-synthase), an enzyme in the heme biosynthetic pathway. Clinically, CEP presents with blistering over face and extremities, scarring, hypertrichosis and dyspigmentation. Acral blistering leads to mutilation of the fingers with acro-osteolysis of distal phalanx We, hereby, report an 8-years-old boy with classical clinical features and porphyrin assays.

Keywords: Congenital erythropoietic porphyria, porphyria, uroporphyrinogen III synthase

How to cite this article:
Singal A, Kayarkatte M N, Pandhi D. Congenital erythropoietic porphyria in an Indian Child. Indian J Paediatr Dermatol 2019;20:141-4

How to cite this URL:
Singal A, Kayarkatte M N, Pandhi D. Congenital erythropoietic porphyria in an Indian Child. Indian J Paediatr Dermatol [serial online] 2019 [cited 2020 Oct 30];20:141-4. Available from: https://www.ijpd.in/text.asp?2019/20/2/141/255210

  Introduction Top

Congenital erythropoietic porphyria (CEP) is a rare form of porphyria, with approximately 170 cases documented so far.[1] It is heritable as autosomal recessive or X-linked recessive disorder, occurring due to the deficiency of uroporphyrinogen III synthase (URO-III-synthase) required in the heme synthesis.[1] This leads to the accumulation of excessive amounts of porphyrins in bone marrow, plasma, red blood cells, urine, and teeth. These patients present with photosensitivity, mutilation, erythrodontia, and passage of dark pink urine. The diagnosis is made with certainty by the study of porphyrin in urine, stool, and blood, and decreased relative enzyme activity of URO-III-synthase.[2]

  Case Report Top

An 8-year-old male, born out of a nonconsanguineous parentage, was brought to the dermatology clinic with complaints of recurrent blistering on photo-exposed area of the face and hands since early childhood that heals spontaneously with atrophic scarring. On questioning, parents reported red staining of underclothes due to the passage of red-colored urine since birth. His birth history was otherwise unremarkable, and he achieved all milestones according to age. He had an average intelligence quotient. There was no history of acute or episodic gastrointestinal or neuropsychiatric complaints. He had a younger sister with similar complaints who died at the age of 3 years following an acute diarrheal disease. There were no similar complaints reported in parents, other two siblings or second-degree relatives. On physical examination, he was found to be below 5th centile for height and weight for his age. Mucocutaneous examination revealed darkly pigmented facial skin, and increased hair growth was evident on both sides of the cheek and forehead. There were multiple papules and atrophic scars in the photo-exposed areas of the face including bridge of the nose, cheeks, upper lip, pinna of ears, “V” area of the chest, and dorsa of the hands [Figure 1] and [Figure 2]. Both hands showed sclerodermoid changes and resorption of the terminal digits of all fingers [Figure 3]. Erythrodontia was noted, and bright-red fluorescence of teeth and urine sample was observed on Wood's lamp examination [Figure 4]. Hematological investigations and blood biochemistry were within normal limits except low hemoglobin of 9 g/dl (microcytic hypochromic anemia), although peripheral smear showed no signs of hemolysis. X-ray chest was normal, and ultrasonography of the abdomen revealed moderate splenomegaly. Dry eyes and conjunctival congestion were observed on ophthalmological evaluation. Roentgenogram of the hands revealed acro-osteolysis of the distal phalanx of multiple fingers and toes. A skin biopsy from the exposed skin of the hand on hematoxylin and eosin (H and E)-stained section revealed acanthosis, elongation of rete ridges, widening of dermal papilla, increased vascularity of dermal papilla, and periodic acid–Schiff (PAS) positive thickened vessel wall with hyalinization and fibrosis [Figure 5]. Based on the history, clinical examination, and histopathology, and provisional diagnosis of porphyria was arrived at most probably CEP. Hepatoerythropoetic porphyria (HEP), an extremely rare homozygous variant of porphyria cutanea tarda (PCT), was also considered as the clinical presentation of CEP and HEP is indistinguishable. His urine, feces, and blood samples were processed for porphyrin, and the results are as mentioned in [Table 1].
Figure 1: Evidence of healed blisters over pinna and nose and excessive hair growth on the forehead and cheeks

Click here to view
Figure 2: Erythrodontia and atrophic scars over the face

Click here to view
Figure 3: Sclerodermoid changes and acro-osteolysis both hands

Click here to view
Figure 4: Bright-red fluorescence of teeth and urine sample on Wood's lamp examination

Click here to view
Figure 5: Lesional histopathology (H and E with periodic acid–Schiff, ×100) showing widened dermal papilla, increased dermal vascularity, and thickened basement membrane of the vessels, giving a festooned appearance

Click here to view
Table 1: Porphyrin levels in patient's urine, faeces and blood samples

Click here to view

Major fraction (81%) of urinary coproporphyrin was uroporphyrin isomer I, and increased fecal coproporphyrin isomer I was noted. In addition, the fluorescence emission spectroscopy showed a very prominent porphyrin peak at 618 nm [Figure 6], establishing the final diagnosis of CEP. The patient was advised strict photoprotection, use of broad-spectrum sunscreen, and hematinics for his anemia.
Figure 6: Prominent porphyrin peak at 618 nm

Click here to view

  Discussion Top

The first description of CEP was published in 1874 by Schultz as a special form of leprosy, “pemphigus leprosus.” Subsequently, in 1911–1912, Gunther described the disease in detail and defined it as “hematoporphyria congenital.”[3]

CEP also called the “Günther disease,” is a very rare variant of porphyria with autosomal recessive inheritance.[1] Of approximately 170 reported cases in the English literature, few are from India; however, the diagnosis is mainly clinical and not always confirmed on porphyrin assays in blood, urine, or feces.[2],[4],[5],[6],[7],[8] CEP results from the mutation in UROS gene. Till date, approximately 39 mutations have been identified and well characterized. These include missense mutations, nonsense mutation, and frameshift mutation.[9]

The skin manifestations are caused by the deficiency of URO-III-synthase, an enzyme in the heme biosynthetic pathway that normally catalyzes the conversion of hydroxymethylbilane to URO III. This directly leads to the accumulation of hydroxymethylbilane that is mostly nonenzymatically converted to URO I. This is then catalyzed by URO decarboxylase to form hepta, hexa, and pentacarboxylporphyrinogen I, and ultimately, coproporphyrinogen I.[10] This accumulates in the bone marrow (normoblasts and reticulocytes), erythrocytes, plasma, bones, and teeth, and undergoes auto-oxidation to the corresponding porphyrins excreted in urine and stools. Porphyrins in red cells cause photosensitive cell lysis, resulting in hemolytic anemia of varying intensity. The patient may present with wide spectrum of clinical manifestation ranging from mild photosensitivity to intrauterine death, depending on the degree of enzyme deficiency.[9] There can be splenomegaly and pigmented gallstones of varying degree due to hemolysis. However, in an Indian study, a case was reported where the patient had no signs of hemolysis similar to our patient.[4] There is severe skin photosensitivity, usually beginning in early infancy and is manifested by increased friability and blistering of the epidermis on sun-exposed areas such as face and hands. Recurrent vesicles and secondary infection lead to scarring and deformities, as well as loss of finger, nails, and digits. The skin may be thickened, with the areas of hypopigmentation and hyperpigmentation. Hypertrichosis of the face and extremities is often prominent. Corneal scarring can also occur, leading to blindness. Pink or red-brown staining of nappies often noticed by parents, due to markedly increased urinary porphyrins may be the first clue to the disease. Porphyrins deposited in the teeth produce a reddish-brown color in natural light termed erythrodontia and was seen in our patient.[2] A similar clinical picture is shared by HEP, which is a homozygous variant of PCT. Specific porphyrin levels in urine, stool, and blood can clinch the diagnosis.[11] Allogeneic bone marrow transplant does help; however, it is associated with high mortality. Gene therapy is in pipeline. General precautions in the form of strict photoprotection, correction of anemia, and splenectomy are important management options.[10],[11] The patient may have a normal lifespan if the disease is diagnosed early with timely introduction of lifestyle modification.[12] Latter helps to minimize or to prevent long-term complications such as scarring and secondary infection.

Declaration of patient consent

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


The authors are extremely thankful to Dr M. Badminton and his team members, Cardiff SAS Porphyria Service, UK, for carrying out porphyrin estimation in this patient.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Madan P, Schaaf CP, Vardhan P, Bhayana S, Chandra P, Anderson KE, et al. Hans Gunther and his disease. Photodermatol Photoimmunol Photomed 2007;23:261-3.  Back to cited text no. 1
Koley S, Saoji V. Congenital erythropoietic porphyria: Two case reports. Indian J Dermatol 2011;56:94-7.  Back to cited text no. 2
[PUBMED]  [Full text]  
Di Pierro E, Brancaleoni V, Granata F. Advances in understanding the pathogenesis of congenital erythropoietic porphyria. Br J Haematol 2016;173:365-79.  Back to cited text no. 3
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. 4
[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. 5
Kumar P, Manimegalai M, Amudha S, Premalatha S. Congenital erythropoietic porphyria associated with ventricular septal defect. Indian J Dermatol Venereol Leprol 1999;65:189-90.  Back to cited text no. 6
[PUBMED]  [Full text]  
Das J, Sarkar JN, Roy AK. Congenital erythropoietic porphyria – A report of two cases. Indian J Dermatol Venereol Leprol 2002;47:176-7.  Back to cited text no. 7
Bari AU. Congenital erythropoietic porphyria in three siblings. Indian J Dermatol Venereol Leprol 2007;73:340-2.  Back to cited text no. 8
[PUBMED]  [Full text]  
Harith AK, Arora S, Kapoor S, Mukherjee B. Congenital erythropoietic porphyria: Insight into the molecular basis of the disease. Indian J Paediatr Dermatol 2016;17:1-6.  Back to cited text no. 9
  [Full text]  
Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med 2017;377:862-72.  Back to cited text no. 10
Sassa S. Modern diagnosis and management of the porphyrias. Br J Haematol 2006;135:281-92.  Back to cited text no. 11
Howard M, Hall A, Ramsay D. Congenital erythropoietic porphyria (Gunther disease) – Long-term follow up of a case and review. Dermatol Online J 2017;23. pii: 13030/qt10n7k90g.  Back to cited text no. 12


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]

  [Table 1]


Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

  In this article
Case Report
Article Figures
Article Tables

 Article Access Statistics
    PDF Downloaded112    
    Comments [Add]    

Recommend this journal