‘Ski-jump’ toenails – A phenotypic manifestation of primary lymphedema

A 42-year-old male with long-standing lymphedema presented to discuss therapeutic options for increasing leg swelling. His lymphedema began spontaneously in his mid-teens and asymmetrically involved both legs. No family history of lymphedema existed. Physical examination was remarkable for minimally pitting bilateral lymphedema extending from the toes to the upper calves. His toenails were diffusely hypoplastic with up-turned concavity consistent with ‘ski-jump’ nails (Panels A and B). This unique ungual appearance is reported to occur in 10–15% of patients with Milroy disease or ‘Milroy-like’ lymphedema. ¹ Although this subject had primary lymphedema, his age of initial presentation and absence of familial lymphedema were not consistent with classic Milroy disease. Recognition of ‘ski-jump’ toenails is clinically useful for establishing the diagnosis of primary lymphedema in unexplained cases of new-onset leg swelling. Additionally, identifying the ‘ski-jump’ nail in late-onset lymphedema cases (e.g. lymphedema tarda) confirms a primary etiology and potentially obviates an expensive evaluation for occult cancer. The patient was ultimately treated with phase I complex decongestive lymphatic therapy and fitted with new Class II gradient compression stockings.

Panel A. Panel B.

‘Images in vascular medicine’ is a regular feature of Vascular Medicine. Readers may submit original, unpublished images related to clinical vascular medicine. Submissions may be sent to: Heather Gornik, Editor in Chief, Vascular Medicine, via the web-based submission system at http://mc.manuscriptcentral.com/vascular-medicine