Title: Paroxysmal Nocturnal Haemoglobinuria (PNH): Rare Clinical Presentation of this Rare Disease

Authors: Dr Gangadhar, Dr Sahil Arora, Dr Prabal Rajvanshi, Dr Swathi T, Dr Jogendra Singh

 DOI:  https://dx.doi.org/10.18535/jmscr/v6i6.182

Abstract

Paroxysmal Nocturnal Haemoglobinuria is a rare haematological disease causing acquired haemolytic anaemia. The clinical spectrum of the disease starts from anaemia (microcytic to macrocytic) to pancytopenia and aplastic anaemia. The disease may present at any age group but the most common prevalence is in the third and fourth decade. This disease is not diagnosed commonly as the classical haematuria is not present in majority. We present the case of 15-year-old boy who presented with skin rash all over body and weakness, which on investigation was diagnosed as case of PNH. Skin manifestation of PNH are very uncommon and rarely reported in literature. A high index of suspicion is necessary for the diagnosis.

Keywords: paroxysmal nocturnal haemoglobinuria, ecchymosis, haemolysis, haemoglobinuria, CD55 and CD59.

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