Single base mutation in the fumarate hydratase gene leading to segmental cutaneous leiomyomatosis.

recently been drawn to the possible interest of einacalcet. a calcimimetic drug that increases the sensitivity of PTH-secreting cells to extracellular calcium, resulting in a decrease of PTH production. This molecule is currently routinely used in end-stage renal failureassociated secondary hyperparathyroidism (4) and its efficiency in calciphylaxis has already been reported in two patients, in whom cutaneous lesions improved quickly after implementation of this treatment (I, 2). Similarly, a strikingly good and fast clinical result was observed in our observation. This favourable evolution is likely to be directly related to cinacalcet irealment.. since the dialysis parameters remained unchanged, and the clinical efficiency was correlated with a decrease in PTH level, but not with changes in calcium or phosphates rates. Moreover, in these three patients, the etlicacy and the rapidity of action of Cinacalcet appear to match the results obtained with parathyroid surgery. Accordingly, this molecule might be considered as a first-line option in patients with general contra-indication to surgery or when parathyroid surgery does not appear mandatory due to the mild nature of cutaneous lesions and/or to the limited PTH rate increase, as illustrated by our patient. Additionally, due to the risk of development of adynamic bone disease, this treatment should probably be restricted to patients with calciphylaxis and secondary hyperparathyroidism even though parathyroidectomy has been advoeated in patients with low PTH levels. Overall, this observation supports the concept of first-line treatment of end-stage renal failure-related calciphylaxis with cinacalcet in monotherapy in patients with secondary hyperparathyroidistn.