Atypical and typical course of neurofibromatosis type 1 in combination with pheochromocytoma

نویسندگان

چکیده

Neurofibromatosis type 1 is a hereditary disease that has multisystem character of organism damage, wide variability clinical manifestations, up to the almost complete absence typical symptoms. Phenotypic their expressiveness and heaviness can be varied even among members same family with identical mutations. One possible manifestations this pathology pheochromocytoma, development which associated high risk developing life-threatening conditions. Timely diagnosis disease, choice treatment tactics for patient, genetic testing blood relatives significantly improve survival rate prognosis disease. In article, on presented examples patients atypical course neurofibromatosis in combination issues managing are outlined.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Pheochromocytoma and Neurofibromatosis Type 1 in a Patient with Hypertension

BACKGROUND Neurofibromatosis type 1 is an autosomal dominant condition that has a variety of clinical manifestations. Essential or secondary hypertension may be associated with neurofibromatosis. A rare finding is hypertension due to pheochromocytoma in patient with neurofibromatosis type 1. CASE REPORT We present a case with a 7-year medical history of hypertension which was poorly controlle...

متن کامل

Combination chemotherapy regimen in a patient with metastatic malignant pheochromocytoma and neurofibromatosis type 1

PATIENT Female, 55 FINAL DIAGNOSIS: Metastatic malignant pheochromocytoma Symptoms: Chest pain • tachycardia • tachypnea MEDICATION - Clinical Procedure: - Specialty: Oncology. OBJECTIVE Rare disease. BACKGROUND Malignant pheochromocytoma is defined as the occurrence of the tumor in an area that is normally devoid of chromaffin tissue, direct tumor invasion, and/or metastasis. Metastatic ...

متن کامل

Pelvic Neurofibroma with Atypical Neurofibromatosis Type 1

A 23 short-stature female patient presenting initially to gynecologist for left ovarian mass and bilateral sciatica but on further investigations it had been proved to be big pelvic neurofibroma with little findings of neurofibromatosis type 1. Surgical excision had been done without any complications. We aim to discuss the manifestations of neurofibromatosis type 1 and why lack of some finding...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Endocrine Surgery

سال: 2022

ISSN: ['2306-3513', '2310-3965']

DOI: https://doi.org/10.14341/serg12730