Bleeding tendency with corkscrew hair

An 18-year-old Thai man presented with a 2-week history of ecchymosis on his left thigh. He denied experiencing previous abnormal bleeding. He had transfusion-dependent β-thalassemia (codon 41/42 and IVS1 nt 1 mutations) with iron overload. The patient took deferiprone and deferoxamine for iron chelation. He reported rarely eating fruits and vegetables. Physical examination showed ecchymosis at the posterior aspect of the left thigh (panel A). Hundreds of follicular erythematous macules were noted on all extremities (panel B). Dermoscopy revealed diffuse corkscrew hairs and perifollicular erythema (panel C, 10× objective). Hemoglobin was 7.7 g/dL, white blood count was 4.2 × 10⁹/L, and platelet count was 210 × 10⁹/L. Ferritin was 4973 μg/L. Prothrombin time was 13.3 (normal 9.5-13.0) seconds, and activated partial thromboplastin time was 38.8 (normal 28.1-39.0) seconds. von Willebrand factor and coagulation factors were in normal range. Light transmitting platelet aggregometry was unremarkable. Skin biopsy showed superficial dermal hemorrhage and kinking hairs in the follicular openings. Serum vitamin C was less than 0.1 mg/L (normal range 2.0-14.0), which confirmed the diagnosis of scurvy.

Low intake and oxidative stress induced by iron overload may be the major precipitating causes of vitamin C deficiency in this patient. Vitamin C was given intravenously. Thigh pain slowly resolved and no further bleeding was observed.

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