An overlooked cutaneous manifestation of Fabry disease: Lower‐extremity ulcers

Fabry disease and granulomatosis with polyangiitis: just an odd coincidence?

“…Intraoral telangiectasias, tongue fissures, granulomatous gingivitis, cheilitis, Raynaud’s phenomenon, anhidrosis, and lymphedema are other findings reported. In FD, few cases of vasculitis or vasculitis‐like lesions are published, proposing pathological mechanisms such as glycosphingolipid accumulation in the endothelium or thromboembolic events leading to leg ulcers 3 …”

“…In FD, few cases of vasculitis or vasculitis-like lesions are published, proposing pathological mechanisms such as glycosphingolipid accumulation in the endothelium or thromboembolic events leading to leg ulcers. 3 The lack of awareness of the clinical spectrum of FD and its low prevalence delays its recognition even for decades and prompts the patients to other diagnoses, for instance, rheumatic conditions. Furthermore, it is more common to find a rheumatologic disease mimicking FD (28%) than the overlap, 4 being reported in scarce literature, mainly systemic vasculitis such as polyarteritis nodosa and GPA suggesting a pathogenic link 5 or just an unusual coincidence.…”