What treatments are available for this disease?
What treatments are available for this disease?
Mr. T. Yamamoto (age 54) presented to the Orthopedics Department. His comp Show more CASE STUDY 1: T. Yamamoto Mr. T. Yamamoto (age 54) presented to the Orthopedics Department. His complaints were swelling and pain in the left hand. His medical history reveals that his parents were consanguineous but there were no symptoms to note in his 5 siblings or his 2 children. He reports that he has always been of short stature since childhood. He noted that he went prematurely gray in his 20s. He noted that his voice has weakened in its pitch since the age of 30 and his skin is undergoing atrophy and wrinkling. In addition he has had surgery for a left eye cataract and is experiencing increased alopecia. He has been referred to orthopedics due to abnormal findings of the 4 th and 5 th metacarpals on X-ray. (See below) Physical findings indicate he is 142.5 cm in height and 41.5 kg in weight. His extremities are thin and his skin is atrophied with reduced subcutaneous fat and muscle. Extensive pigmentation (age spots) are noted on his skin. His hair is scarce and grey. His face looks aged and he has a beaked shaped nose. Voice is high pitched and hoarse. External genitalia appeared atrophied. Lab findings indicate decreased glucose tolerance and decreased natural killer cell activity. X-ray findings note erosion of the cortex of the 4 th and 5 th metacarpals and a tumor shadow in the soft tissue on the ulnar surface. Biopsy of the tumor reveals spindle shaped polynuclear cells resembling epithelial cells but not demonstrating typical cellular structure. Staining revealed presence of mucopolysaccharides within the cells. A diagnosis of monophasic spindle cell synovial cell carcinoma was made. Mr. Yamamoto is scheduled for below elbow amputation. 1. How common is this syndrome and where does this disease occur more often? 2. In what manner is this disease inherited? 3. What are consanguineous parents? Would this have an effect on transmission of the disease? 4. What treatments are available for this disease? Any help would be appreciated. Show less
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