Jaffe-Campanacci sendromu

Jaffe-Campanacci sendromu, gen mutasyonuyla ortaya çıkan izole sendromlardandır. Deride café-au-lait (sütlü kahve) pigmentasyonu, uzun kemiklerde non-ossifying fibromalar[1] ile bunların neden olduğu patolojik kırıklar, çenelerde dev hücreli reparatif granülom özelliği taşıyan lezyonlar, hipogonadizm[2] ve zeka geriliği bulgularını içerir. Kalıtsal olgular az sayıdadır ve Nörofibromatoz tip 1 grubu içinde yer alırlar.[3][4][5]

Jaffe-Campanacci sendromu: tibia'da Non-ossifying fibroma

Kaynakça
  1. Mankin HJ, Trahan CA, Fondren G, Mankin CJ. Non-ossifying fibroma, fibrous cortical defect and Jaffe-Campanacci syndrome: a biologic and clinical review. La Chirurgia degli Organi di Movimento, 93(1):1-7, 2009
  2. Choi E mi, Jung N, Shim YJ, et al. Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report. Annals of Pediatric Endocrinology & Metabolism, 21(4):240-244, 2016
  3. Kotzot D, Stöss H, Wagner H, Ulmer R. Jaffe-Campanacci syndrome: case report and review of literature. Clinical Dysmorphology, 3(4):328-334, 1994
  4. Hau MA, Fox EJ, Cates JM, et al. Jaffe-Campanacci syndrome. A case report and review of the literature. Journal of Bone & Joint Surgery, 84-A:634–638, 2002
  5. Stewart DR, Brems H, Gomes AG, et al. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. Genetics in Medicine, 16:448–459, 2014
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