scholarly journals McCune-Albright Syndrome; Polyostotic Fibrous Dysplasia, Hyperthyroidism and Café-Au-Lait Spots: A Case Report

2019 ◽  
Vol 23 (2) ◽  
Author(s):  
Rozita Naseri ◽  
Zahra Jamadi ◽  
Arezoo Saeedinia
Keyword(s):  
Case Report ◽  
Fibrous Dysplasia ◽  
Polyostotic Fibrous Dysplasia ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Albright Syndrome ◽  
Mccune Albright

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.

Polyostotic Fibrous Dysplasia Related to Mccune Albright Syndrome: Case Report

2014 ◽  
Vol 117 (2) ◽  
pp. e131
Author(s):  
MATHEUS HENRIQUE ALVES DE LIMA ◽  
AMANDA LAÍSA DE OLIVEIRA LIMA ◽  
THAYNÁ MELO DE LIMA MORAIS ◽  
KARINE CÁSSIA BATISTA LÚCIO E SILVA ◽  
KARTLAND VIEIRA DE LUNA PAIVA ◽  
...  
Keyword(s):  
Case Report ◽  
Fibrous Dysplasia ◽  
Polyostotic Fibrous Dysplasia ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright

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”.

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.

Polyostotic fibrous dysplasia with gigantism and huge pelvic tumor: a rare case of McCune–Albright syndrome

2010 ◽  
Vol 16 (3) ◽  
pp. 270-274 ◽  
Author(s):  
Kenshi Sakayama ◽  
Yoshifumi Sugawara ◽  
Teruki Kidani ◽  
Taketsugu Fujibuchi ◽  
Katsumi Kito ◽  
...  
Keyword(s):  
Fibrous Dysplasia ◽  
Rare Case ◽  
Pelvic Tumor ◽  
Polyostotic Fibrous Dysplasia ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright
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