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International Journal of Medical Science and Public Health

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Gunthers with haemolytic anaemia extremly rare: A case report

Nilesh Kumar, Ankur Varshney, Arvind Anand, Dibyaranjan Behera, Ravi Anand, Ashutosh Tiwari.

Abstract
Congenital erythropoietic porphyria (CEP), also called Gunthers is the rarest of the porphyrias , with a prevalence estimated at 1 in 1,000,000 or less. Only approximately 200 cases of CEP have been reported till now worldwide. CEP affects males and females equally, and occurs in all ethnic groups. Clinically it is a subacute to chronic type of porphyria, defect is expressed in infancy and clinical features such as extreme cutaneous photosensitivity, blistering, scarring , hyper- and hypo pigmentation of photo exposed parts. Haemolytic anaemia with splenomegaly, and retarded growth may also be present. Due to its rarity we are presenting Congenital erythropoietic porphyria with haemolytic anaemia.

Key words: Gunthers; Porphyria; Haemolytic Anaemia; Photosensitivity; Genetic


 
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REFERENCES
1. Murphy GM. Diagnosis and management of the erythropoietic porphyrias. Dermatol Ther; 2003;16(1):57-64. [DOI via Crossref]    [Pubmed]   
2. Lane N. Born to the purple: the story of porphyria. Scientific American. Scientific American. 2002. Dec 16. Available at: URL: http://www.scientificamerican.com/article.cfm?id=born-to-the-purple-the-st
3. Lourenco CM, Lee C, Anderson KE. Disorders of Haem Biosynthesis. In: Saudubray JM, Berghe G, Walter JH. (in English). Inborn Metabolic Diseases: Diagnosis and Treatment .5th ed. New York: Springer; 2012:p. 521–532.
4. Stokvis BJ . Over twee zeldzame kleurstoffen in urine van zieken" (in Dutch). Ned Tijdschr Geneeskd1889; 133 (51): 2562–70.
5. Thadani H, Deacon A, Peters T. Diagnosis and management of porphyria". BMJ 2000;320(7250): 1647–1651.
6. Bickers DR, Pathak MA,LIMHW. The Porphyrias . In: Fitzpatrick TB, Eisen AZ, Wolff K (eds.). Dermatology in general medicine . Mc Graw Hill Inc.New York :1993: p 1854-93.
7. Gupta S, Gupta U, Tiwari NK, Saraswat PK, Gupta DK. Gunthers disease . Indian J Dermatol. 1998:43(2):79-81.
8. Poh Fitzpatrick MB. Erythropoietic Porphyria : Current mechanistic, diagnostic and therapeutic considerations . Semin. Hematol. 1977;14 : 211-215. [Pubmed]   
9. Majid S, Massod QA, Hassan I, Veshnavi S, Hussain ST . Feasibility of diagnosis and typing of Porphyrias in developing countries like India-its biochemical basis . JK Practitioner 2006:13(1) 30-33.
10. Hebel JL, Poh-Fitzpatrick MB. Congenital Erythropoietic Porphyria. [Updated 2009 Jan 12]. Available from: http://emedicine.medscape.com/article/1103274-overview
11. Massod QA, Hassan I, Khan D, Sameem F, Quadri MI, Hussain ST, et al. Congenital erythropoietic porphyria with hemolytic anemia. Indian J Dermatol 2005;50:155-7.
12. Dawe SA, Peters J, Du Vivier A, Creamer JD. Congenital erythropoietic porphyria: Dilemmas in present day management. Clin Exp Dermatol. 2002;27:680-3. [DOI via Crossref]    [Pubmed]   

How to Cite this Article
Pubmed Style

Kumar N, Varshney A, Anand A, Behera D, Anand R, Tiwari A. Gunthers with haemolytic anaemia extremly rare: A case report. Int J Med Sci Public Health. 2013; 2(2): 472-474. doi:10.5455/ijmsph.2013.2.313-315



Web Style

Kumar N, Varshney A, Anand A, Behera D, Anand R, Tiwari A. Gunthers with haemolytic anaemia extremly rare: A case report. www.scopemed.org/?mno=30526 [Access: November 19, 2017]. doi:10.5455/ijmsph.2013.2.313-315



AMA (American Medical Association) Style

Kumar N, Varshney A, Anand A, Behera D, Anand R, Tiwari A. Gunthers with haemolytic anaemia extremly rare: A case report. Int J Med Sci Public Health. 2013; 2(2): 472-474. doi:10.5455/ijmsph.2013.2.313-315



Vancouver/ICMJE Style

Kumar N, Varshney A, Anand A, Behera D, Anand R, Tiwari A. Gunthers with haemolytic anaemia extremly rare: A case report. Int J Med Sci Public Health. (2013), [cited November 19, 2017]; 2(2): 472-474. doi:10.5455/ijmsph.2013.2.313-315



Harvard Style

Kumar, N., Varshney, A., Anand, A., Behera, D., Anand, R. & Tiwari, A. (2013) Gunthers with haemolytic anaemia extremly rare: A case report. Int J Med Sci Public Health, 2 (2), 472-474. doi:10.5455/ijmsph.2013.2.313-315



Turabian Style

Kumar, Nilesh, Ankur Varshney, Arvind Anand, Dibyaranjan Behera, Ravi Anand, and Ashutosh Tiwari. 2013. Gunthers with haemolytic anaemia extremly rare: A case report. International Journal of Medical Science and Public Health , 2 (2), 472-474. doi:10.5455/ijmsph.2013.2.313-315



Chicago Style

Kumar, Nilesh, Ankur Varshney, Arvind Anand, Dibyaranjan Behera, Ravi Anand, and Ashutosh Tiwari. "Gunthers with haemolytic anaemia extremly rare: A case report." International Journal of Medical Science and Public Health 2 (2013), 472-474. doi:10.5455/ijmsph.2013.2.313-315



MLA (The Modern Language Association) Style

Kumar, Nilesh, Ankur Varshney, Arvind Anand, Dibyaranjan Behera, Ravi Anand, and Ashutosh Tiwari. "Gunthers with haemolytic anaemia extremly rare: A case report." International Journal of Medical Science and Public Health 2.2 (2013), 472-474. Print. doi:10.5455/ijmsph.2013.2.313-315



APA (American Psychological Association) Style

Kumar, N., Varshney, A., Anand, A., Behera, D., Anand, R. & Tiwari, A. (2013) Gunthers with haemolytic anaemia extremly rare: A case report. International Journal of Medical Science and Public Health , 2 (2), 472-474. doi:10.5455/ijmsph.2013.2.313-315



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Retraction notice [Dec 03, 2016]
Retraction notice [Mar 02, 2015]
Submission of article [Jul 22, 2012]


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