Syndrome | Inheritance/gene | Cutaneous pigmentation | Testicular tumors | Gastrointestinal involvement | Malignancy | Thyroid abnormalities | Other endocrinopathies |
McCune-Albright syndrome | Somatic/GNAS | "Coast of Maine" café-au-lait patches; oral mucosal lentigines | Leydig cell hyperplasia; Sertoli cell hyperplasia | Possible hamartomatous polyps; IPMN | Small increase in risk of malignancies in affected tissues (thyroid, bone, pancreas) | Patchy heterogeneity and cystic changes; hyperthyroid | Precocious puberty; GH excess; neonatal Cushing syndrome |
Peutz-Jeghers syndrome | AD/STK11 (LKB1)* | Mucosal and cutaneous lentigines | Large cell calcifying Sertoli cell tumor | Hamartomatous polyps | Ovarian; breast; pancreatic; thyroid; cervix; cholangiocarcinoma | Malignancy | None |
Carney complex | AD/PRKAR1a¶ | Cutaneous and mucosal lentigines; blue nevi; melanocytic nevi; CALM; hypopigmented lesions | Large cell calcifying Sertoli cell tumor; Leydig cell tumor | Psammomatous melanocytic schwannoma; pancreatic lesions including IPMN | Adrenal; hepatocellular; pancreatic; osteochondromyxomas | Hyperplasia; cystic changes; malignancy | PPNAD; GH excess; prolactin excess; pituitary adenomas; Cushing syndrome |
Laugier-Hunziker syndrome | Acquired | Melanonychia striata; genital pigmentation; palmoplantar pigmentation | None | None | None | None | None |
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