European Journal of Case Reports in Internal Medicine

 

The European Journal of Case Reports in Internal Medicine is an official journal of the European Federation of Internal Medicine (EFIM). The journal wants to promote the practice of internal medicine in Europe. Its aim is to provide a forum to internal medicine doctors.
EJCRIM welcomes papers describing unusual or complex cases and case series that an internist may encounter in everyday practice. Case series are also welcomed as long as they demonstrate the appropiateness of a therapeutical approach or unusual manifestation of a disease.
The journal would also consider brief reasoned reports of issues relevant to the practice of Internal Medicine, as well as Abstracts submitted to scientific meetings of European societies of Internal Medicine.

EJCRIM is peer-reviewed with single-blind review and freely accessible to all.

 
Yanet Parodis Lopez, Nery Sablon Gonzalez, Noel Lorenzo Villalba, Rafael Camacho Galvan, Jose Carlos Rodriguez Perez
Ahmed Gabr, Khalid El Kholy, James Crotty, Margaret O’Connor, Elijah Chaila
Manabu Kurabayashi, Hidetoshi Suzuki, Tsukasa Shimura, Yasuteru Yamauchi, Kaoru Okishige
Eleni Mylona, Styliani Golfinopoulou, Pelagia Sfakianaki, George Kyriakopoulos, Ioannis Tsonis, Theofanis Apostolou, Christina Vourlakou, Athanasios Skoutelis
Elena A. Kochmareva, Valentin A. Kokorin, Evgenia A. Kondrashova, Nadejda V. Khokhlova, Argishti G. Vardanyan, Ilya A. Kokorin, Dmitry A. Doroshenko
Michele Mondoni, Paolo Carlucci, Elena Maria Parazzini, Paolo Busatto, Stefano Centanni
Kristien Velding, Bert Mulder, Jeroen Oeben, Annelies Suurmeijer, Thiemo F Veneman
Senthil Chandrasekaram, Ranga H Fernando, Vikram Aaarella, Emily T Mudenha, Devaka J Fernando

A Case of Congenital Erythropoietic Porphyria without Haemolysis

Kapil Kumar Garg, Harpreet Singh
Published: 22/09/2016

ABSTRACT

Porphyrias are a group of disorders caused by enzymatic defects in the biosynthesis of haem. Congenital erythropoietic porphyria (CEP) or Günther's disease is an extremely rare autosomal recessive disorder. Clinical manifestations include onset in infancy of blistering of sun-exposed areas, atrophic scars, mutilated fingers, and bright red fluorescence of the urine and teeth without neurological involvement. The only available prophylactic treatment for CEP is total avoidance of sunlight. A high degree of suspicion is required for the diagnosis. Early diagnosis is very important to prevent subsequent damage.

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