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The neck, Thoracic Inlet and Outlet, the Axilla and Chest Wall, the Ribs, Sternum and Clavicles.
Published in Fred W Wright, Radiology of the Chest and Related Conditions, 2022
Fibrous dysplasia (fibro-cystic disease) may be mono- or polyostotic and be part of the Albright syndrome. Medullary bone is replaced by fibrosing tissue in which osteoid may develop and calcify. The ribs may be widened and deformed with tubular expansion, thickening and coarsening of the normal bone and sometimes a 'twisted tape' appearance (Illus. RIB FIBROUS DYSPLASIA, Pt. 4a). Incomplete or pseudo-fractures may be present, as well as well-defined cystic looking areas (Illus. RIB FIBROUS DYSPLASIA, Pt. 1 & 3). The cortex is usually intact, but may be thinned or thickened like 'orange peel'. In gross cases a 'soap bubble' appearance may be produced. The lesions progress mostly in adolescence or young adults, but can enlarge in older patients. Localised expansion may mimic a tumour. Illus. RIB FIBROUS DYSPLASIA, Pt. 2a-c shows a localised lesion which had been present for 30 years, and then enlarged further - it also gave a positive isotope bone scan.
Endocrinology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Mehul Dattani, Catherine Peters
Hypoparathyroidism is characterised biochemically by hypocalcaemia, hyperphosphataemia and reduced PTH concentrations. In pseudohypoparathyroidism, PTH concentrations are elevated, and the diagnosis may be confirmed genetically or clinically by an inability to increase urinary cAMP levels and phosphate excretion in response to an infusion of parathormone. In Albright syndrome, hormonal resistance may be generalised and the clinical picture includes GHD, hypogonadism and hypothyroidism.
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Published in Anton Sebastian, A Dictionary of the History of Medicine, 2018
Albright Syndrome Patchy areas of skin pigmentation, bone change, endocrine dysfunction and precocious puberty in females. Described by Fuller Albright (1900–1969), Alan Marcy Butler (b 1894), A.O. Hampton and P. Smith in 1937. It was described independently in the same year by D. McCune and H. Bruch, as osteodystrophia fibrosa.
A case of recurrent pigmented macules in Laugier-Hunziker syndrome treated using a Q-switched Nd-YAG laser
Published in Journal of Cosmetic and Laser Therapy, 2019
Myoung Eun Choi, Chang Jin Jung, Woo Jin Lee, Chong Hyun Won, Sung Eun Chang, Mi Woo Lee, Jee Ho Choi, Seung Hwan Paik
The differential diagnosis of multiple mucosal pigmentations includes Peutz-Jeghers syndrome, Addison’s disease, McCune-Albright syndrome and neurofibromatosis (1). A variety of drugs such as minocycline, phenothiazines, ketoconazole, oral contraceptives, zidovudine and chemotherapeutic agents can induce hyperpigmentation in the oral cavity (1,2). Ruling out Peutz-Jeghers syndrome requires STK11 gene testing or a gastrointestinal endoscopy since patients with this condition are at a high risk of gastrointestinal cancer (1). The pigmentation associated with Peutz-Jehgers syndrome typically occurs in childhood and nail involvement is rare. Addison’s disease is associated with a low production of cortisol and aldosterone and can be ruled out by measuring the serum levels of cortisol and ACTH in addition to assessing clinical symptoms including fatigue, weakness, loss of weight, and gastrointestinal disturbances. McCune-Albright syndrome is characterized by unilateral café au lait spots, precocious puberty and polyostotic fibrous dysplasia (2).
Characteristics of sinonasal fibrous dysplasia: experience from a single department
Published in Acta Oto-Laryngologica, 2018
Chen Duan, Qi Dai, Quan Liu, Hongmeng Yu
There were 16 females and 12 males among the 28 patients, and the median age was 31.5 years (range 7–69 years). The age group with the highest prevalence was the group aged 20–30 years, followed by the group aged 30–40 years. Together, the patients in these age groups constituted approximately 60% of the patients. The monostotic and polyostotic types accounted for 50% of the patients each. Furthermore, none of the patients were diagnosed with McCune–Albright syndrome. One patient had previously undergone surgery at another hospital. The CT diagnosis rate was 75%. It is based on histopathologic diagnosis after surgery. The remaining seven CT images resulted in an uncertain diagnosis or a diagnosis resembling osteoma or OF. Among our patients, the most common symptoms were nasal obstruction (25%), vision impairment (21%), headache (18%), facial deformity (18%), and facial pain(11%). Among the six vision impairment, five were accompanied by decreased visual and one had diplopia The above basal clinical characteristics of the patients are listed in Table 1.
First radiobiological characterization of the McCune–Albright syndrome: influence of the ATM protein and effect of statins + bisphosphonates treatment
Published in International Journal of Radiation Biology, 2021
Jean-Thomas Bachelet, Adeline Granzotto, Mélanie Ferlazzo, Laurène Sonzogni, Elise Berthel, Clément Devic, Nicolas Foray
MacCune–Albright syndrome (MAS) is an autosomal dominant osteo-hormonal disorder that was simultaneously identified in 1937 by MacCune (McCune and Bruch 1937) and Albright (Albright et al. 1937). MAS is characterized by a severe form of polyostotic fibrous dysplasia, ‘café-au-lait’ pigmentation of the skin, and multiple endocrinopathies, including precocious puberty, hyperthyroidism, pituitary adenomas secreting growth hormone and autonomous adrenal hyperplasia. MAS is an orphan disease with a birth incidence estimated between 1/105 and 1/106. Its worldwide prevalence is less than 0.05% (Albright et al. 1937; Boyce and Collins 1993; Dumitrescu and Collins 2008; McCune and Bruch 1937).