Tumor was intertwined with quadriceps muscles, making identification and excision difficult. Tumor was successfully excised with only minor rehabilitation required. Familial leiomyoma
Associated with papillary variant of renal cell carcinoma and multiple cutaneous leiomyoma. Defect is in the fumarate hydratase gene in the long arm of chromosome 1. See also
Leiomyosarcoma
Elagolix/estradiol/norethindrone acetate

References
External links

Esophageal Leiomyoma at eMedicine
Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system, resulting in the neurological problems characteristic of Arts syndrome. The reason for the increased risk of respiratory infections in Arts syndrome is unclear.Novel missense mutation - c.367C>G (p.His123Asp) c.455T→C (p. L152P), c.398A→C (p.Q133P) p. Ile275Thr and p.Gly306Glu

Genetics
Arts syndrome follows an X-linked inheritance. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell sometimes causes features of the disorder; in other cases, these females do not experience any symptoms. In the small number of Arts syndrome cases that have been identified, affected individuals have inherited the mutation from a mother who carries an altered copy of the PRPS1 gene. If the mother is a carrier, the chance of transmitting the PRPS1 mutation in each pregnancy is 50%. Males who inherit the mutation will be affected; females who inherit the mutation will be carriers and may or may not be mildly affected. Males with Arts syndrome do not reproduce.Charcot-Marie-Tooth disease-5, Arts syndrome and X-linked nonsyndromic sensorineural deafness present three clinically distinct but genetically allelic disorders, caused by reduced phosphoribosylpyrophosphate synthetase 1 (PRS1) activity due to PRPS1 mutations. Only three families with CMTX5 and two families Arts syndrome, respectively, have been reported worldwide so far.