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Síndrome de McCune-Albrigth: Evaluación del Compromiso Craneofacial y de Columna por Imágenes de Resonancia Magnética
Garcés,Javier; Munduteguy,Martín; Romero,Carlos; Mazzucco,Juan;
Revista argentina de radiolog?-a , 2011,
Abstract: we report on a 27-year-old female with the classical mccune-albright syndrome. this condition is characterized by precocious puberty, café-au-lait spots, polyostotic fibrous dysplasia and gigantism. mr findings are described in skull, face and spine.
McCune-Albright syndrome
Juraj Payer,Jana Kollerová,L’udmila Ko??álová,Tomá? Koller
Reumatologia , 2011,
Abstract: McCune-Albright syndrome (MAS) is a very rare disease characterizedby the triad of bone defects, skin hyperpigmentation, andvarious types of endocrine and non-endocrine manifestations. Itfalls into the category of sporadic genetic disorders and its exactincidence is unknown. In its more severe forms, the disease manifestsitself already in early childhood and can gradually affectmore and more organs throughout life. The extent and degree ofinvolvement of affected tissues are heterogeneous due to themosaicism of the genetic mutation. The disease is the subject ofextensive research and new pathogenetic mechanisms are beingelucidated, leading to new diagnostic and therapeutic choices. Inaddition, the authors present a case report of an adult femalepatient with McCune-Albright syndrome. The clinical picture isdominated by bone involvement, thyroid hyperfunction and persistenthyperestrogenism. The case report underlines the fact thatmanagement of patients with McCune-Albright syndrome continuesto be a challenge.
Enfermedad de McCune-Albright
Marrero Riverón,Luis Oscar; Rondón García,Vilma; Melo Víctores,Martha; Chao Carrasco,Lina Aurora; Roché Egües,Hilda Elena; Roche Sánchez,Jorge Luis;
Revista Cubana de Ortopedia y Traumatolog?-a , 2005,
Abstract: the study of the diagnosis and follow-up of mccune-albright′s disease in a male patient aged 8 years affected by this rare entity was conducted.
McCune-Albright syndrome
Juraj Payer,Jana Kollerová
Reumatologia , 2011,
Abstract: McCune-Albright syndrome belongs to rare genetic diseases.Albright initially described the syndrome in 1937 as the triad andMcCune extended it to include manifestations of hyperthyroidism.Other signs were attributed to the clinical picture later on andmore signs continue to be revealed at present.The syndrome is a result of sporadic early-onset postzygoticsomatic mutation of the GNAS1 gene and is characterized by thetriad of bone dysplasia, skin hyperpigmentation and variousendocrine hyperfunctions. The extent and degree of involvementof affected tissues are heterogeneous due to mosaicism for thegenetic mutation and thus every patient has a particular phenotype.The disease is the subject of extensive research and newpathogenetic mechanisms are being elucidated leading to newdiagnostic and therapeutic choices. Patients with McCune--Albright syndrome ultimately grow-up but burden of the diseaseunfortunately continues to reduce their quality of life. For dominatingbone and endocrine involvement they are managed primarilyby endocrinologists, however rheumatologists are increasinglyinterested in recognising the McCune-Albright syndrome. Skeletaldeformities, fractures and hyperestrogenism as well as growth hormonehyperproduction are some of the most frequent challenges inmanagement.
McCune-Albright syndrome
Claudia E Dumitrescu, Michael T Collins
Orphanet Journal of Rare Diseases , 2008, DOI: 10.1186/1750-1172-3-12
Abstract: Originally, the McCune-Albright syndrome (MAS) was defined by the triad of polyostotic fibrous dysplasia of bone (FD), café-au-lait skin pigmentation, and precocious puberty (PP) [1,2]. It was later recognized that other endocrinopathies, including hyperthyroidism (reviewed in [3]), growth hormone (GH) excess [4,5], renal phosphate wasting with or without rickets/osteomalacia [6] and Cushing syndrome could be found in association with the original triad [7-9]. Rarely, other organ systems may be involved (liver, cardiac, parathyroid, pancreas) [10].While MAS is rare, FD is not. FD can involve a single skeletal site (monostotic FD, MFD), or multiple sites (polyostotic FD, PFD) [11-14]. Very rarely PP can be found in association with café-au-lait skin pigmentation in the absence of FD (about 1% of the cases), but in general, FD seems to be the most common component of MAS. Therefore, a more clinically relevant definition of MAS, broader than the original triad of FD + PP + café-au-lait is: MAS = FD + at least one of the typical hyperfunctioning endocrinopathies and/or café-au-lait spots, with almost any combination possible [13,15].MAS is a rare disease and reliable data of prevalence are not available (the estimated prevalence ranges between 1/100,000 and 1/1,000,000). In contrast, the skeletal aspect of the disease, FD, especially monostotic disease, is not rare [16]. FD has been reported to account for up to 7% of all benign bone tumors.Typically, the signs and symptoms of either PP or FD usually account for the initial presentation. In girls with PP, it is usually vaginal bleeding or spotting, accompanied by development of breast tissue, usually without the development of pubic hair. In boys, it can be bilateral (or unilateral) testicular enlargement with penile enlargement, scrotal rugae, body odor, pubic and axillary hair, and precocious sexual behavior. In retrospect, café-au-lait spots (Fig. 1), which are usually present at birth or shortly thereafter, are the
Treatment of Pathological Bone Fractures in a Patient with McCune-Albright Syndrome  [PDF]
Jana Kollerova,Tomas Koller,Zuzana Zelinkova,Ludmila Kostalova,Juraj Payer
Case Reports in Endocrinology , 2013, DOI: 10.1155/2013/589872
Abstract: McCune-Albright syndrome is a rare genetic disorder with typical skeletal and endocrine manifestations. The disease course is complicated by recurrent fractures resulting from polyostotic fibrous dysplasia and the treatment is thus primarily directed at the reduction of the risk of fractures. However, due to the complex mechanism of the skeletal damage the standard antiporotic therapeutics are ineffective. We report here a case of a 31-year-old female, diagnosed with the McCune-Albright syndrome in early childhood. She was suffering from extensive bone involvement, complicated by recurrent fractures despite the treatment with bisphosphonates. In addition, the disease course was complicated by the impairment of several endocrine functions—precocious puberty, hyperestrogenism, and hyperthyroidism for which a total thyroidectomy was performed. During the operation, two enlarged parathyroid glands were removed. This resulted in severe hypocalcaemia in the postoperative period with a need for supplementation with very high calcium and vitamin D doses. After this episode, the patient has remained free of fractures. We discuss here the corrected thyroid function, the supplementation with unconventionally high doses of vitamin D and calcium, and the termination of bisphosphonates treatment as presumable factors contributing to the reduced fracture risk in this patient. 1. Introduction McCune-Albright syndrome belongs to rare genetic diseases. It results from sporadic early-onset postzygotic somatic mutations in the GNAS1 gene and is characterized by the triad of bone dysplasia, skin hyperpigmentation, and various endocrine organs involvement. The extent and degree of involvement of affected tissues are heterogeneous due to the mosaicism of the genetic mutations and therefore the phenotypes can differ in each individual patient. In the past years, important insights have been gained into the pathogenetic mechanisms of the disease [1]. However, the therapeutic decision-making remains complicated and no clear standards exist [2]. Patients with McCune-Albright syndrome reach the adult age with a significant burden of the disease that continuously reduces their quality of life. Skeletal deformities, fractures, hyperthyroidism, and hyperestrogenism are just few of the many challenges in the management of these patients. Here, we present our experience with the management of these particular complications in an adult female patient with McCune-Albright syndrome. 2. Case Report 31-year-old female was diagnosed with McCune-Albright syndrome in early childhood and her
McCune-Albright syndrome: A case report in a male
Patel Krina
Indian Journal of Dermatology, Venereology and Leprology , 2010,
Abstract: McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a male patient with MAS having multiple cafι-au-lait macules and deforming polyostotic fibrous dysplasia involving long bones of the limbs, skull and spine without any endocrine abnormality. Severe bone deformities involving almost all bones have not been described previously and this prompted us to present the current case.
Envolvimento orbitário difuso por displasia fibrosa na síndrome de McCune Albright: relato de caso
Costanzi, Márcio Alberto;Cruz, Antonio Augusto Velasco e;
Arquivos Brasileiros de Oftalmologia , 2007, DOI: 10.1590/S0004-27492007000600026
Abstract: fibrous dysplasia is a benign, slowly progressive bone disorder, in which normal bone is replaced by fibrous tissue. it is called mccune albright syndrome when associated with skin hyperpigmentation and endocrinological disorders. we report a rare case of mccune albright syndrome in a boy, who presented bilateral and diffuse involvement of orbits but few external craniofacial distortions.
McCune-Albright Syndrome: Report of a Case
Mahdi Haghighatafshar,Armaghan Fard-Esfahani,Fateme Karami,Mohsen Saghari
Iranian Journal of Nuclear Medicine , 2010,
Abstract: A 29- year old female with bone pain and history of precocious puberty was referred for bone scintigraphy. On physical examination café au lait macular spots were noted on her neck, buttocks and left leg. Bone scan showed multiple areas of intense increased activity which was in favour of polyostotic fibrous dysplasia. Considering the presence of polyostotic fibrous dysplasia, precocious puberty and café au lait macular spots, MacCune-Albright syndrome was confirmed in this patient.
A Rare Cause of Acromegaly: Short Review of McCune Albright Syndrome  [cached]
Yusuf Ayd?n,Dilek Berker,Sercan Bulut,Yasemin Ate? Tütüncü
Turkish Journal of Endocrinology and Metabolism , 2009,
Abstract: McCune-Albright syndrome (MAS) is characterized by a triad of poly/monostotic fibrous dysplasia, café-au-lait macules, and hyperfunctioning endocrinopathies, including growth hormone (GH) excess. Acromegaly, as a manifestation of endocrine hyperfunction with MAS is uncommon. We report a 34-year-old man with MAS and acromegaly, in whom surgical removal of the pituitary tumour has been technically difficult because of bone deformities. A combination of a long-acting somatostatin analogue (Sandostatin LAR) and external irradiation were therefore used as treatment. Acromegaly associated with MAS is very rarely seen, and has been the subject of approximately 70 published reports. We present a case of acromegaly associated with MAS and a brief survey of relevant literature. Turk Jem 2009; 13: 13-5
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