engleski

Multiple Non Ossifying Fibromas in 20 year old patient with Speckled Lentiginous Nevus Syndrome; Jaffe-Campanacci syndrome?

INTRODUCTION: Speckled lentiginous nevus syndrome is a recently described syndrome with male to female ratio of 4:3 ; usually present at birth but may appear during first years of life. Cafe au lait macules can be topped by either browns or black macules or papules. Patients usually present with musculosceletal and neurological anomaly at ipsilateral site. Nonossifying fibromas (NOFs) are the most common benign bone tumor in children. The tumors affected long bones as the humerus, the tibia, the femur, the fibula. Approximately 8 % of people with NOF will have more than one tumor. It is uncommon to have more than two or three tumors except in certain very rare conditions like Jaffe – Campanacci 's syndrome. This syndrome can present only with skin patches and NOFs, but also as a part of more severe systemic presentation like cardiovascular, renal, ocular abnormalities and mental retardation. CASE PRESENTATION: a 20 year old female with a known diagnosis of Speckled lentiginous nevus Syndrome presented to our Department in 2012 for evaluation of prolonged discomfort in the right leg. Performed MRI showed atrophy in right leg and hyperintensive ovale zone (24x10 mm) in distal part of left femur. Three phase bone scan revealed decreased uptake in all 3 phases in right lower extremity, without focal lesions in the left and increased uptake in right humerus (initally evaluted as a bone infarct or eosinophilic granuloma). Bone scan performed in 2013 showed increased left – right asymmetry uptake between lower extremities. Since than she developed paresthesia in right arm. X-ray showed a 41x10 mm zone in proximal diaphysis of right humerus suspected for NOF. Bone scan performed in 2016 showed same changes in right humerus as 2012, but with new focal increased uptake in distal part of diaphysis of left femur with same scintigraphy pattern as in the right arm. Diagnosis of multiple non- ossifying fibromas was presumed. CONCLUSION: Regarding the clinical presentation and bone scan, diagnosis of Jaffe-Campanacci syndrome was presumed.

NOF, Jaffe-Campanacci syndrome, bone scintigraphy

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