An uncommon presentation of hexosaminidase deficiency

An uncommon presentation of pachyonychia congenital

A 10-month-old female presented with severe progressive wedge-shaped thickening and discoloration of all twenty nails. Further evaluations revealed palmoplantar keratoderma along with recurrent acral blisters causing residual crusted ulcers which were present during the past six months. Other findings include scalp kinky hair and dental caries. Patient history was remarkable for natal tee...

A Case of Empyema necessitans: An uncommon presentation of Empyema

ABSTRACTIntroductionEmpyema is an accumulation of pus in the pleural space. Empyema necessitans occurs when pus extends through the parietal pleura into the surrounding tissues.Case ReportWe present here a 4 month old babywith severe respiratory distress and anassociated huge boggy swelling over the left side of his chest and back. Evaluation revealed pus accumulated in the pleural space which ...

Factor X deficiency: An uncommon presentation of AL amyloidosis

Factor X deficiency is the most common coagulation factor deficiency amongst patients with AL amyloidosis. It presumably occurs due to adsorption of factor X to amyloid fibrils. The deficiency of this factor, in conjunction with other hemostatic defects, can cause bleeding complications. A case of acquired factor X deficiency due to AL amyloidosis is reported, where abnormal coagulation paramet...

An unusual presentation of an uncommon disease

Extrapulmonary manifestations of sarcoidosis often go undiagnozed. Sarcoidosis should be considered in the differential diagnosis of cases presenting with parotid gland swelling, renal failure, and hypercalcemia. It's imperative to confirm the diagnosis with a tissue biopsy, as the condition is easily treatable with steroids.

An uncommon presentation of a common cancer.