Isolated distal cutaneous thrombosis: An unusual presentation and an interesting etiology

A middle-aged hypertensive male, with a fatty liver and chronic alcohol intake, relocated to a high altitude of 2100 m above sea level; in the first winter season, he developed bluish skin lesions over the tip of the nose, margins of both ear lobes, both knees, and subungual location. Systemic examination was unremarkable. Skin biopsy showed thrombi in dermal vessels without any evidence of vasculitis; immunofluorescence was negative. Investigations revealed mild elevation in plasma homocysteine levels, weakly positive antinuclear antibodies and elevated antiphospholipid antibodies, methylene tetrahydrofolate reductase C677T heterozygosity, and protein S deficiency. The patient received prednisolone for 2 weeks, aspirin and pentoxyphylline for 3 months, and continues to be on folic acid and vitamin B6. After 3 months, antiphospholipid antibodies and antinuclear antibody levels were normal. Isolated distal cutaneous thrombosis is an uncommon entity and precipitation by extreme cold in a hypertensive male with three thrombophilic states - one transient, one hereditary, and one acquired - is fascinating.

Keywords
Antiphospholipid antibodies, cutaneous thrombosis, methylene tetrahydrofolate reductase, protein S deficiency, thrombophilia