Cihangir YURDOĞLU, Mehmet Uğur ÖZBAYDAR, Müjdat ADAŞ, Harzem ÖZGER

Aynı aileden üç olguda ailesel tümöral kalsinozis

Tümöral kalsinozis esas olarak periartiküler bölgelerde, iri kalsifiye yumuşak doku kitleleri şeklinde görülen nadir bir hastalıktır. Bu yazıda, ailesel tümöral kalsinozisli bir baba ve iki çocuğu sunuldu. Kırk beş yaşındaki baba, 10 yaşından başlayarak çeşitli aralıklarla sağ dirsek posteriorunda, her iki kalçada, sol gluteal bölgede, perineal bölgede ortaya çıkan kitleler nedeniyle çok sayıda ameliyat geçirmişti. On altı yaşındaki erkek çocukta ise, ilk kez 10 yaşındayken olmak üzere, dirsek posteriorunda ortaya çıkan lezyon çıkarılmasından iki yıl sonra tekrarlamış ve yeniden ameliyat edilmişti. Daha sonra hasta sağ dirseğinde, sağ ayak dorsalinde ortaya çıkan lezyonlar için ameliyat edildi. On iki yaşındaki kız çocukta lezyon aynı yaşta, sağ ayak dorsalinde ortaya çıktı ve cerrahi tedaviyle çıkarıldı. Üç olguda da bütün ameliyatların patoloji sonuçları tümöral kalsinozis olarak bildirildi. Üç hastada da normokalsemi, hiperfosfatemi ve vitamin D hipervitaminozu vardı.

Anahtar Kelimeler:

Tanı, ayırıcı, Kalça, Ayak, Kemik neoplazmları, Dirsek, Kalsinoz, Hastalığa genetik yatkınlık, Soyağacı

Familial tumoral calcinosis in three patients in the same family

Tumoral calcinosis is a rare condition characterized by large calcific soft tissue deposits occurring predominantly in a periarticular location. Familial tumoral calcinosis was detected in three members of a family, namely, the father and two offsprings. The father underwent many operations since age 10 for occurrences or recurrences of mass lesions in the right posterior elbow, both hips, left gluteal region, and perineal region. His 16-year-old son underwent his first operation at the age of 10 for a lesion in the posterior elbow, which recurred at the same site and required another operation two years later. He underwent subsequent surgeries for lesions that appeared in the right elbow and right dorsal foot. Finally, the 12-year-old daughter was treated with surgery for a lesion in the right dorsal foot. In all the patients, pathologic diagnoses of all surgical specimens were reported as tumoral calcinosis. All had normocalcemia, hyperphosphatemia, and D hypervitaminosis.

Keywords:

Diagnosis, Differential, Hip, Foot, Bone Neoplasms, Elbow, Calcinosis, Genetic Predisposition to Disease, Pedigree,

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