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1.
Article in English | IMSEAR | ID: sea-152428

ABSTRACT

Pulmonary alveolar proteinosis is a rare lung disease in which abnormal accumulation of surfactant occurs with in the alveoli, interfering with gas exchange. PAP can occur in a primary form or secondarily in the settings of malignancy , pulmonary infection, or environmental exposure to dusts or chemicals. Rare familial forms have also been recognized suggesting a genetic component . we are going to present a rare case of pulmonary alveolar proteinosis.

3.
Article in English | IMSEAR | ID: sea-152993

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.

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