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Thévenard’s disease, aka. ulcero-mutilating acropathology syndrome, is a rare hereditary disorder. In this report, we describe the case of a 6-year old patient with deep, non-healing ulcers on her lower extremities that progressed to spontaneous mutilation of her toes and distal phalanges. In this case, seldom-reported features were encountered such as hands’ involvement, absence of family history and congenital absence of teeth eruption. Diagnosing this case can be challenging due to the rarity of the disease. Early detection and appropriate approach help to better-control complications and further-delay disability, especially that no cure has been identified for this case yet. Therefore, it is vital to keep this syndrome as part of a deferential diagnosis when approaching patients with similar symptoms. It is also important to emphasize that regular examinations and rapid response to new lesions are crucial and should be combined with education and support to patients and their families.

A recessive case of Thévenard’s disease, aka. ulcero-mutilating acropathology syndrome with hypodontia