A Rare Soft Tissue Tumor Masquerading as a Parathyroid Adenoma in a Patient with Birt-Hogg-Dubé Syndrome and Multiple Cervical Endocrinopathies

المؤلفون المشاركون

Mikesell, Kael V.
Kulaylat, Afif N.
Donaldson, Keri J.
Saunders, Brian D.
Crist, Henry S.

المصدر

Case Reports in Pathology

العدد

المجلد 2014، العدد 2014 (31 ديسمبر/كانون الأول 2014)، ص ص. 1-5، 5ص.

الناشر

Hindawi Publishing Corporation

تاريخ النشر

2014-12-24

دولة النشر

مصر

عدد الصفحات

5

التخصصات الرئيسية

الأمراض

الملخص EN

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder that presents with renal tumors, pulmonary cysts with spontaneous pneumothoraces, and skin hamartomas.

We present a case of a 67-year-old female with multiple endocrinopathies and a history of BHD syndrome.

In 2011, a thyroidectomy with a four-gland parathyroidectomy was performed for toxic multinodular goiter (TMNG) and parathyroid hyperplasia.

On frozen section, a tumor was identified next to a hypercellular parathyroid.

After being worked up, this tumor was determined to be an adult rhabdomyoma.

This represents the first time that both TMNG and parathyroid hyperplasia have been present in a BHD patient.

Additionally, this is the first adult rhabdomyoma reported in a patient with BHD syndrome.

Adult rhabdomyomas have no reported associations; however, potential colocation of the mutation in BHD syndrome and translocation in adult rhabdomyomas on chromosome 17p suggests a possible connection.

Further work is needed to better understand this connection.

نمط استشهاد جمعية علماء النفس الأمريكية (APA)

Mikesell, Kael V.& Kulaylat, Afif N.& Donaldson, Keri J.& Saunders, Brian D.& Crist, Henry S.. 2014. A Rare Soft Tissue Tumor Masquerading as a Parathyroid Adenoma in a Patient with Birt-Hogg-Dubé Syndrome and Multiple Cervical Endocrinopathies. Case Reports in Pathology،Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-1017537

نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)

Mikesell, Kael V.…[et al.]. A Rare Soft Tissue Tumor Masquerading as a Parathyroid Adenoma in a Patient with Birt-Hogg-Dubé Syndrome and Multiple Cervical Endocrinopathies. Case Reports in Pathology No. 2014 (2014), pp.1-5.
https://search.emarefa.net/detail/BIM-1017537

نمط استشهاد الجمعية الطبية الأمريكية (AMA)

Mikesell, Kael V.& Kulaylat, Afif N.& Donaldson, Keri J.& Saunders, Brian D.& Crist, Henry S.. A Rare Soft Tissue Tumor Masquerading as a Parathyroid Adenoma in a Patient with Birt-Hogg-Dubé Syndrome and Multiple Cervical Endocrinopathies. Case Reports in Pathology. 2014. Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-1017537

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references

رقم السجل

BIM-1017537