ABSTRACT
Polyostotic fibrous dysplasia is a rare benign asymptomatic tumour of the ribs not requiring surgery on most occasions. We present here a case with left 10th and 11th rib fibrous dysplasia which was causing a hinderance to the Urologist for renalstone extraction. Therefore the 10th and 11th ribs were excised followed by chest wall reconstruction.
Subject(s)
Fibrous Dysplasia of Bone , Fibrous Dysplasia, Polyostotic , Humans , Fibrous Dysplasia, Polyostotic/diagnostic imaging , Fibrous Dysplasia, Polyostotic/surgery , Tomography, X-Ray Computed , Fibrous Dysplasia of Bone/diagnostic imaging , Fibrous Dysplasia of Bone/surgery , Ribs/diagnostic imaging , Ribs/surgery , Ribs/pathology , Diagnosis, DifferentialABSTRACT
Fibrous dysplasia is an uncommon genetic disorder in which bone is replaced by immature bone and fibrous tissue, manifesting as slowgrowing lesions. Sporadic post-zygotic activating mutations in GNAS gene result in dysregulated GαS-protein signaling and elevation of cyclic adenosine monophosphate in affected tissues. This condition has a broad clinical spectrum, ranging from insignificant solitary lesions to severe disease. The craniofacial area is the most common site of fibrous dysplasia, and nine out of 10 patients with fibrous dysplasia affecting the craniofacial bones present before the age of 5. Surgery is the mainstay of treatment, but the technique varies according to the location and severity of the lesion and associated symptoms. The timing and indications of surgery should be carefully chosen with multidisciplinary consultations and a patient-specific approach.
ABSTRACT
Introducción: El síndrome de McCune-Albright (SMA) es una enfermedad rara caracterizada por la triada: manchas cutáneas de color café con leche, displasia fibrosa poliostótica y pubertad precoz. Puede afectar a diversos ejes hormonales, entre ellos el de la hormona de crecimiento (GH), pudiendo asociarse a acromegalia. Reporte de caso: describimos el caso de una mujer de 44 años, con pubertad precoz periférica, hemorragia uterina anormal, crecimiento de manos y pies, prognatismo, prominencia frontal, manchas café con leche y tumoraciones pétreas en cara y antebrazos. Resultados: Apoyados con exámenes laboratoriales y de imágenes, se llegaron a los diagnósticos de acromegalia, hipogonadismo hipogonadotropo y síndrome de McCune-Albright. La paciente fue sometida a tratamiento quirúrgico con persistencia de enfermedad clínica y laboratorial. Conclusión: El diagnóstico y tratamiento oportunos de la acromegalia y sus complicaciones brindará un mejor pronóstico a los pacientes con SMA.
Background: McCune-Albright syndrome (MAS) is a rare disease characterized by the triad: café-au-lait skin spots, polyostotic fibrous dysplasia, and precocious puberty. It can affect various hormonal axes, including growth hormone (GH), and may be associated with acromegaly. We describe the case Case report:of a 44-year-old woman with peripheral precocious puberty, abnormal uterinebleeding, growthof thehands and feet, prognathism, frontal prominence, café-au-lait spots, and stony tumorsonthefaceandforearms.Supportedby Results:laboratory and imaging tests, the diagnoses of acromegaly, hypogonadotropic hypogonadism and McCune-Albright syndrome were reached. The patient underwent surgical treatment with persistence of clinical and laboratory disease. Conclusion: Timely diagnosis and treatment of acromegaly and its complications will provide a better prognosis for patients with MAS
ABSTRACT
McCune-Albright syndrome (MAS) is a rare multisystem disorder characterized by a clinical triad of polyostotic fibrous dysplasia (FD), skin pigmentation, and hyperfunctioning endocrinopathies. A 42-year-old man visited our medical hospital for the treatment of intermittent headaches and was diagnosed with MAS with acromegaly. This patient showed various clinical features of MAS, including pituitary adenoma, polyostotic FD, and hypogonadotropic hypogonadism. The FD lesions showed characteristic radiographic features, such as widespread, sclerotic bony lesions in the cranial bones, mixed radiolucent-radiopaque multilocular lesions in the mandible, and radiolucent lesions in the axial and appendicular skeleton. Over the years, the patient had been hospitalized multiple times due to accidental bony fractures associated with the fragile bony state of FD. This report presents a retrospective description of a case of MAS, with a review of the relevant literature.
ABSTRACT
McCune - Albright syndrome is a genetic disease with cutaneous mosaicism caused by post-zygotic activating mutations in GNAS locus, it has a triad of fibrous bone dysplasia, café-au-lait macules and precocious puberty. We examined a 22-year-old female patient with café au lait spot in right side of the abdomen, with a chessboard - like distribution, extending to right thigh with geographical contours, she has also an ovarian cyst, scoliosis and truncal obesity. Biopsies were taken from the hyperpigmented area and processed for light microscopy and for transmission electron microscopy. Light microscopy showed increased melanin pigment with HE staining. Immunohistochemistry with melanocytic markers (HMB-45 and Melan-A) revealed a normal number of melanocytes. Transmission electron microscopy demonstrated normal epidermal structures, such as desmosomes, cytokeratin filaments and hemidesmosomes. With high magnifications an irregular melanossomal contour was seen, with some indentations in their outline.
Subject(s)
Fibrous Dysplasia of Bone , Fibrous Dysplasia, Polyostotic , Puberty, Precocious , Adult , Cafe-au-Lait Spots , Female , Fibrous Dysplasia, Polyostotic/diagnosis , Humans , Microscopy, Electron, Transmission , Young AdultABSTRACT
RESUMEN El Síndrome de McCune-Albright (SMA) es una enfermedad poco frecuente compuesta por una tríada clásica: displasia fibrosa poliostótica (DFP), manchas cutáneas de color café con leche y alteraciones endocrinas, siendo la más frecuente la pubertad precoz. Este síndrome no se ha visto asociado a enfermedades autoinmunes. Reportamos el primer caso de una paciente con SMA y lupus eritematoso sistémico.
ABSTRACT McCune-Albright Syndrome (MAS) is a rare disease characterized by a classical triad: polyostotic fibrous dysplasia (PFD), cafe-au-lait macules and endocrine abnormalities, most frequently precocious puberty. This syndrome has not been associated with autoimmune diseases. We report the first case of a patient with MAS and systemic lupus erythematosus.
Subject(s)
Humans , Female , Child , Fibrous Dysplasia, Polyostotic/complications , Lupus Erythematosus, Systemic/complications , Diagnosis, Differential , Lupus Erythematosus, Systemic/diagnosisABSTRACT
OBJECTIVE: The purpose of this case report is to describe the features of an unusual presentation of fibrous dysplasia. CLINICAL FEATURES: A 53-year-old woman had low back pain and numbness in the anterior upper left thigh that started 3 years earlier after a fall. She experienced pain during active lumbar flexion and extension range of motion. Radiographic examination demonstrated an oval geographic osteolytic lesion in the left ilium and abnormal trabecular architecture with variable-sized osteolytic lesions and both ill-defined and well-defined borders along the sacroiliac joint margin. INTERVENTION AND OUTCOME: Because of the aggressive osteolytic appearance, magnetic resonance imaging of the pelvis with gadolinium contrast was obtained for additional characterization of the lesions. There were 3 additional mixed signal lesions located within the left femoral neck and extending to the greater trochanter that enhanced with contrast. Because of the suspicion of malignancy, needle biopsy was performed. The pathologic findings in combination with the radiographic appearance confirmed the diagnosis of polyostotic fibrous dysplasia. CONCLUSION: This case demonstrated a rare aggressive appearance of polyostotic fibrous dysplasia located in the left innominate and the left proximal femur that prompted a diagnostic imaging workup and biopsy for suspected skeletal malignancy. These lesions may require careful evaluation by an experienced team of physicians, radiologists, and pathologists to ensure proper diagnosis and treatment.
ABSTRACT
Fibrous dysplasia of the bone (FDB) is a common, genetic, developmental disorder with a benign course. FDB can be seen anywhere throughout the skeleton. It is usually asymptomatic and found incidentally on imaging studies that are performed for other purposes. Although whole body 18 F-flourodeoxyglucose PET/CT (FDG PET/CT) is widely used in tumor imaging, infections and benign pathologies like FDB may cause false positive results. Herein we report the case of a 48-year-old FDB patient with transitional cell carcinoma of the urinary bladder. Restaging FDG PET/CT showed multiple mild to moderate hypermetabolic bone lesions which were initially misinterpreted as bone metastases. In this case report, we aimed to guide physicians in evaluating bone lesions in cancer patients with FDB in the light of the literature.
ABSTRACT
A displasia fibrosa (DF) do osso é uma desordem congênita, não hereditária, do esqueleto e de caráter benigno, que cursa com amplo espectro de apresentação, variando do assintomático à dor óssea, fraturas de repetição, deformidades ósseas (fêmur em cajado de pastor e fácies leonina) e compressão de nervos cranianos. É comumente referida como uma doença óssea de alto turnover. Todos os casos contêm a mutação GNAS1. A DF apresenta duas formas: a monostótica, mais comum, e a poliostótica, mais rara, que quando acompanhada de manchas café-com-leite e puberdade precoce constitui a síndrome de McCune -Albright. O tratamento pode ser feito com medicamentos como bifosfonato ou de forma cirúrgica, objetivando-se a correção das lesões. Este trabalho relata o caso de um menino de cinco anos de idade cujos sinais e sintomas conduziam ao diagnóstico de DF. Além disso, faz revisão de literatura sobre uma doença pouco comum, com variada gama de diagnósticos diferenciais.
Background and Objectives: Fibrous Dysplasia (FD) of bone is a benign nothereditary congenital disorder of medullary bone maintenace in which bone undergoingphysiologic lysis is replaced by abnormal proliferation of fibrous tissue,resulting in assymmetric distortion and expantion of bone. It may be confined toa single bone (monostotic) or involve several bones (polyostotic). Prompt recognitionof this disease is important once it takes part in a wide group of differentialdiagnosis. This review is intended to provide clinicians with an understanding ofthe pathophysiology that underlies FD and its presentation forms. Methods: Thisarticle reviews and analyzes literature relevant to the pathophysiology and managementof FD and presents a case-study of a five-year-old boy who came downwith it. Methods include search of MEDLINE, and bibliographic search of currenttextbooks and journal articles. Results and Conclusions: The patient who wasinvestigated had, at the beginning, bone pain and other symptoms leading toa possible diagnosis of FD, which was confirmed by bone biopsy. He remainsasymptomatic.
Subject(s)
Humans , Male , Child , Diphosphonates/therapeutic use , Fibrous Dysplasia of Bone/diagnosis , Fibrous Dysplasia of Bone/drug therapy , Biopsy , Diagnosis, Differential , RadiographyABSTRACT
A displasia fibrosa é considerada uma desordem óssea benigna, de progressão lenta na qual há substituição de osso normal por tecido fibroso Quando associada a hiperpigmentação de pele e distúrbios endocrinológicos denomina-se síndrome de McCune Albright. Relatamos um caso raro de síndrome de McCune Albright em uma criança do sexo masculino que apesar de apresentar mínimas distorções crânio-facial externas, mostrou um envolvimento difuso e bilateral das órbitas.
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.
Subject(s)
Child , Humans , Male , Fibrous Dysplasia, Polyostotic/diagnosis , Orbital Diseases/etiology , Craniofacial Abnormalities , Fibrous Dysplasia, Polyostotic/complications , Orbital Diseases , Tomography, X-Ray ComputedABSTRACT
Objective A 23-year-old female patient who had a past history of sexual - precocity and fracture developed hyperhyroidism 8 months ago. Radiological examination revealed enlargement of sella turcica and a adrenal gland nodule. The patient was diagnosed to have McCune -Albright syndrome and scheduled for resection of left subtotal adrenalectomy under general anesthesia. The patient was taking (1) thiamazole 5 mg t. i. d. and propranolol 10 mg q. d. for hyperthyroidism; (2) adalat 10 mg t. i. d. and potassium citrate 20 ml t. i. d. for Cushing syndrome and (3) calcium tablets for osteoporosis. Anesthesia was induced with intravenous midazolam 1 mg, fentanyl 50 ?g and vecuronium 1 mg followed by propofol 150 mg and succinyl choline 100 mg. The patient was intubated and mechanically ventilated (VT = 500 ml, RR =10 bpm, I: E = 1 :2) . PET CO2 was maintained between 35 - 45 mm Hg. Anesthesia was maintained with inhalation of isoflurane and N2O - O2 (1:2) and intermittent i.v. boluses of fentanyl and vecuronium. The BP was increased to 180/110 mm Hg after induction of anesthesia. Urapidil 10 mg was given intermittently i.v. During the exploration of adrenal gland BP was again increased to 200/140 mm Hg. Nitroglycerin was infused i.v. and BP was decreased to 120-130/80-90 mm Hg and was kept at this level till the end of operation. Hydrocortisone succinate 100 mg was infused i.v. slowly after operation. The operation went smoothly. The patient was extubated and the postoperative course was uneventful.
