Hyperparathyroidism Jaw Tumor Syndrome Presenting as Recurrent Femur Fractures in a Young Woman; a Rare Presentation of a Rare Disease
المؤلفون المشاركون
Somasundaram, Noel
Wijewickrama, Piyumi S. A.
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-4، 4ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-03-16
دولة النشر
مصر
عدد الصفحات
4
التخصصات الرئيسية
الملخص EN
Background.
Primary hyperparathyroidism usually occurs secondary to parathyroid adenoma, multiglandular hyperplasia, or parathyroid carcinoma.
The patients usually present with incidentally discovered high calcium level and systemic or skeletal manifestations.
In young patients with primary hyperparathyroidism, familial syndromes including multiple endocrine neoplasia types 1, 2, and 4 and hyperparathyroidism jaw tumor syndrome should be considered.
Case Description.
We present a case of a 22-year-old Sri Lankan woman who presented with femur fractures in a background of childhood nephroblastoma and maxillary fibro-osseous tumor.
The patient had biochemical parameters suggestive of primary hyperparathyroidism with a parathyroid mass.
The histology following excision of the mass revealed a parathyroid adenoma.
Based on the associated clinical manifestations, hyperparathyroidism jaw tumor syndrome was suspected, and genetic studies reported a positive CDC73 mutation with a whole-gene deletion of exon 1–17.
Conclusion.
Hyperparathyroidism jaw tumor syndrome is an important diagnosis to consider in a young patient presenting with classic clinical features due to the risk of malignancy, familial involvement, and need to monitor for progressive systemic manifestations.
As this is a rare disease, it can often be missed due to low degree of suspicion and the ability of the jaw tumor to mimic a metastatic deposit.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Wijewickrama, Piyumi S. A.& Somasundaram, Noel. 2020. Hyperparathyroidism Jaw Tumor Syndrome Presenting as Recurrent Femur Fractures in a Young Woman; a Rare Presentation of a Rare Disease. Case Reports in Endocrinology،Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1147176
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Wijewickrama, Piyumi S. A.& Somasundaram, Noel. Hyperparathyroidism Jaw Tumor Syndrome Presenting as Recurrent Femur Fractures in a Young Woman; a Rare Presentation of a Rare Disease. Case Reports in Endocrinology No. 2020 (2020), pp.1-4.
https://search.emarefa.net/detail/BIM-1147176
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Wijewickrama, Piyumi S. A.& Somasundaram, Noel. Hyperparathyroidism Jaw Tumor Syndrome Presenting as Recurrent Femur Fractures in a Young Woman; a Rare Presentation of a Rare Disease. Case Reports in Endocrinology. 2020. Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1147176
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1147176
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر