McCune-Albright Syndrome without Cafe au Lait Spots

2014 ◽  
Vol 10 (3) ◽  
pp. 488-500
Author(s):  
C Pop-Radu
Keyword(s):  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Albright Syndrome ◽  
Mccune Albright

Atypical Femoral Fracture in McCune-Albright Syndrome

2020 ◽  
Vol 7 (3) ◽  
pp. 147-152
Author(s):  
Salman Ghaffari ◽  
◽  
Mehran Razavipour ◽  
Parastoo Mohammad Amini ◽  
◽  
...  
Keyword(s):  
Femoral Fracture ◽  
Dynamic Compression ◽  
Plate Fixation ◽  
Medullary Canal ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
History Of ◽  
Albright Syndrome ◽  
Mccune Albright

McCune-Albright Syndrome (MAS) is characterized by endocrinopathies, café-au-lait spots, and fibrous dysplasia. Bisphosphonates are the most prescribed treatment for reducing the pain but their long-term use has been associated with atypical fractures of cortical bones like femur in patients. We present a 23-year-old girl diagnosed with MAS. She had an atypical mid-shaft left femoral fracture that happened during simple walking. She also had a history of long-term use of alendronate. Because of the narrow medullary canal, we used 14 holes hybrid locking plate for the lateral aspect of the thigh to fix the fracture and 5 holes dynamic compression plate (instead of the intramedullary nail) in the anterior surface to double fix it, reducing the probability of device failure. With double plate fixation and discontinuation of alendronate, the complete union was achieved five months after surgery

scholarly journals McCune Albright Syndrome: A Case Report

2020 ◽  
Vol 40 (2) ◽  
pp. 134-137
Author(s):  
Subhana Thapa Karki ◽  
Vandana Jain
Keyword(s):  
Case Report ◽  
Fibrous Dysplasia ◽  
Precocious Puberty ◽  
Genetic Disease ◽  
Clinical Presentation ◽  
Endocrine Disorders ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Albright Syndrome ◽  
Mccune Albright

McCune Albright syndrome (MAS) is a very rare genetic disease characterised by any two of the following three findings: café au lait spots, polyosteotic fibrous dysplasia and endocrine disorders. The clinical presentation of MAS may vary depending on which of the various components of the syndrome predominate. Here, we report one case of MAS presenting with precocious puberty.

scholarly journals “Café-Au-Lait Spots” Caused by Vitiligo in McCune-Albright Syndrome

2000 ◽  
Vol 15 (12) ◽  
pp. 2521-2523
Author(s):  
Michael P. Whyte ◽  
Michelle N. Podgornik ◽  
Jan Zerega ◽  
William R. Reinus
Keyword(s):  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Albright Syndrome ◽  
Mccune Albright

scholarly journals Delayed Diagnosis of McCune–Albright Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Bereket Fantahun ◽  
Seblewongel Desta
Keyword(s):  
Genetic Disorder ◽  
Delayed Diagnosis ◽  
Female Child ◽  
Pathological Fractures ◽  
Mccune Albright Syndrome ◽  
Case Presentation ◽  
Café Au Lait Spots ◽  
Care Outcomes ◽  
Albright Syndrome ◽  
Mccune Albright

Background. McCune–Albright syndrome (MAS) is a rare heterogeneous genetic disorder that is characterized by a triad of polyostotic fibrous dysplasia (FD), café au lait spots (CAL), and multiple hyperfunctional endocrinopathies. In general, it is diagnosed clinically. From the triads, two of the findings are enough to make the diagnosis, but genetic testing can be done if it is available. Case Presentation. We report a female child who was symptomatic since the neonatal period with skin hyperpigmentation, breast enlargement, and vaginal bleeding. She was diagnosed with MAS at the age of five years. She had pathological fractures at multiple sites and had raised thyroid hormones since the age of 3½ years. The child developed severe morbidity as the result of delayed diagnosis and currently became wheelchair dependent. Conclusion. Thorough patient evaluation and appropriate interpretation of findings are crucial steps for timely diagnosis of MAS and better patient care outcomes.

scholarly journals The “Phantom of the Opera” sign of craniofacial fibrous dysplasia with unilateral polyostotic involvement in McCune-Albright syndrome

2017 ◽  
Vol 4 (2) ◽  
pp. 43
Author(s):  
W. Phillip Law ◽  
Peter Jackson
Keyword(s):  
Fibrous Dysplasia ◽  
Genetic Disorder ◽  
Polyostotic Fibrous Dysplasia ◽  
Skeletal Scintigraphy ◽  
Facial Bones ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Gnas Gene ◽  
Albright Syndrome ◽  
Mccune Albright

McCune-Albright syndrome is a very rare genetic disorder resulting from a sporadically occurring somatic \textit{GNAS} gene mutation. It is characterised by the association of: endocrinopathy (most commonly precocious puberty), polyostotic fibrous dysplasia, and cutaneous pigmentation with café-au-lait spots with edges resembling the coast of Maine. We present a case of McCune-Albright syndrome with unilateral polyostotic fibrous dysplasia including involvement of the skull and facial bones on one side resulting in an appearance on skeletal scintigraphy resembling the characteristic mask of the “Phantom of the Opera”.

Metyrapone as treatment in the neonatal McCune–Albright syndrome

2020 ◽  
Vol 33 (8) ◽  
pp. 1093-1096
Author(s):  
Carmen de Mingo ◽  
María Brugada ◽  
Sara León ◽  
Francisca Moreno ◽  
Nieves Vila ◽  
...  
Keyword(s):  
Cushing’S Syndrome ◽  
Laboratory Data ◽  
Bone Dysplasia ◽  
High Volume ◽  
Abdominal Ultrasound ◽  
Cushing's Syndrome ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Albright Syndrome ◽  
Mccune Albright

AbstractObjectivesTo present a case report of succesfully metyrapone treatment of a neonatal patient with McCune–Albrigth syndrome (MAS), a rare disease caused by a genetically mosaic disorder and is characterized by variable hyperfunctional endocrinopathies, bone dysplasia, and café-au-lait spots.Case presentationA preterm newborn was admitted to hospital and she presented difficulty controlling hypertension, café-au-lait spots, and failure to thrive. An abdominal ultrasound and a magnetic resonance showed a high volume of both suprarenal glands. Therefore, MAS was suspected. Laboratory data confirmed adrenocorticotropic hormone-independent Cushing’s syndrome with hepatic dysfunction and metyrapone treatment was initiated. A progressive normalization of cortisol levels was achieved despite poor oral tolerance.ConclusionOur case shows that metyrapone is useful in the management of neonatal Cushing’s syndrome due to McCune–Albright syndrome.

scholarly journals SUN-476 Risk of Thyroid Cancer in McCune-Albright Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Sarah L Bick ◽  
Linda J Steinkrauss ◽  
Mihir M Thacker ◽  
Loren Berman ◽  
Anthony W Gannon
Keyword(s):  
Thyroid Cancer ◽  
Fibrous Dysplasia ◽  
Thyroid Nodules ◽  
Central Neck ◽  
Papillary Thyroid ◽  
Polyostotic Fibrous Dysplasia ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Albright Syndrome ◽  
Mccune Albright

Abstract Background: McCune-Albright syndrome (MAS) is a well described genetic syndrome characterized by café-au-lait spots, polyostotic fibrous dysplasia, and hyperfunctioning endocrinopathies. Hyperthyroidism is a common endocrine manifestation of MAS, but thyroid nodules are less frequently observed. Thyroid cancer is generally considered uncommon in patients affected by MAS. Clinical Case: A 15-year-old male was referred to endocrinology for evaluation of polyostotic fibrous dysplasia with onset at 6 years old. He had no café-au-lait spots and initial labwork revealed no endocrine abnormalities. Subsequent labwork revealed non-autoimmune hyperthyroidism, leading to a diagnosis of MAS. Repeat clinical assessment revealed a goiter. 123-I uptake and scan revealed diffusely increased uptake throughout the gland with increased intensity in two regions of the right lobe separated by a region of photopenia. Ultrasound demonstrated three right-sided thyroid nodules – two correlating with the areas of increased iodine uptake and one with the area of photopenia. The left lobe of the thyroid was normal. FNA biopsy was performed and cytopathology was consistent with Bethesda II and III for the hyperfunctioning nodules and Bethesda VI for the cold nodule. The patient received total thyroidectomy with right-sided central neck dissection, and he was found to have multiple foci of papillary thyroid carcinoma with central neck metastases. The largest hyperfunctioning thyroid nodule was benign. He received radioactive iodine ablation which demonstrated no distant metastases and has had no evidence of recurrent disease. Conclusions: Hyperthyroidism is a common manifestation of MAS, but thyroid nodules are much less frequently observed, and thyroid cancer is considered quite rare. This patient developed TSH-independent hyperthyroidism in normal thyroid cells as well as in two hyperfunctioning thyroid nodules. He developed two contemporaneous classical papillary thyroid cancers – one manifesting as a nonfunctioning thyroid nodule and one manifesting as a thyrotoxic nodule with lymphatic invasion. We conclude that individuals with MAS may be at an increased risk for thyroid nodules and thyroid cancer, although the data are not well established. Clinicians should have a low threshold for thyroid ultrasound in patients with MAS and goiter. Reference: (1) Collins, M. T., Sarlis, N. J., Merino, M. J., Monroe, J., Crawford, S. E., Krakoff, J. A., Guthrie, L. C., Bonat, S., Robey, P. G., & Shenker, A. (2003). Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gsα mutations. The Journal of Clinical Endocrinology & Metabolism, 88(9), 4413-4417. (2) Hannon, T. S., Noonan, K., Steinmetz, R., Eugster, E. A., Levine, M. A., & Pescovitz, O. H. (2003). Is McCune-Albright syndrome overlooked in subjects with fibrous dysplasia of bone?. The Journal of pediatrics, 142(5), 532-538.

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