Multiple familial cutaneous leiomyoma

INTRODUCTION: Cutaneous leiomyoma is a benign tumor, the discovery of which may suggest a hereditary form. We report a family in which 5 generations developed cutaneous and uterine leiomyomas. The originality of this report lies in the large number of generations developing the disease and the association with chronic myeloid leukemia. OBSERVATIONS: We have studied 16 members of a family with cutaneous and uterine leiomyomas spanning five generations. Eight members of the family (6 women and 2 men) presented with cutaneous leiomyomas. All 6 women also had uterine myomas with complications (menometrorrhagia, miscarriage, premature delivery and hysterectomy). Pathological association was also confirmed: polycythemia (1 case), papillary renal carcinoma (1 case) and chronic myeloid leukemia (1 case). DISCUSSION: Piloleiomyoma can develop sporadically or can be transmitted genetically. To our knowledge, we report the fifth case of a family of more than 2 generations presenting with piloleiomyoma. By studying the family tree, we were able to confirm the dominant autosomal nature of the mode of transmission found by other authors. The association of piloleiomyoma and uterine myoma is classified as Reed's syndrome. In such cases, the uterine myoma requires particularly careful monitoring since it is associated with significant risk of gynecological complications (menometrorrhagia, miscarriage, premature delivery and postpartum hemorrhage). Moreover, in our observations we describe diseases associated with piloleiomyoma: polycythemia (1 case), papillary renal carcinoma (1 case), but also the association of piloleiomyoma with chronic myeloid leukemia (1 case). A previous report described the same genetic deletion in uterine myoma as in chronic myeloid leukemia, which gives further weight to this association.