1/14. Imaging of McCune-Albright syndrome using bone single photon emission computed tomography.McCune-Albright syndrome is a rare disorder caused by a somatic, constitutively activating mutation in the gene (GNAS1) encoding the subunit of the signal transducing guanine nucleotide binding protein (G protein). The condition is characterized by polyostotic fibrous dysplasia, cafe-au-lait pigmentation and multiple endocrine hyperfunction, most commonly gonadotropin-independent precocious puberty in girls. Our patient, a 16-year-old male, with radiologically confirmed polyostotic fibrous dysplasia in cranium, thoracic and pelvic girdles, spine and extremities was studied using planar 99mTc-hydroxymethyldiphosphonate bone scintigraphy and single photon emission computed tomography. Using bone scintigraphy, an unusually extensive and asymmetric fibrous dysplasia was observed in the cranium, face, ribs, femur, humerus, ulna, tibia and the vertebral column, all on the left side. The whole body scan revealed only a few foci on the right side. Single photon emission computed tomography demonstrated extensive unilateral involvement in the base of the skull, facial bones, maxilla and mandible. All the lesions reached only the midline. These findings formed the basis of further treatment, eg. reconstructive surgery of facial asymmetry. CONCLUSION: McCune-Albright syndrome should be considered in the differential diagnosis when interpreting extensive unilateral predominance in paediatric bone scans.- - - - - - - - - - ranking = 1keywords = mandible (Clic here for more details about this article) |
2/14. Cranio-facial fibrous dysplasia in a 38-year-old African woman: a case history.A 38-year-old woman sought treatment with cranio-facial dysplasia involving the cranium, maxilla and the mandible. Her chief complaint was a mandibular swelling, which had appeared about 2 years previously, had gradually enlarged, and was associated with spontaneous pain. x-ray film examination revealed a ground-glass opacity with blurred demarcation and a 99 Tc medronate bone scan disclosed an increase in tracer uptake in the cranium, maxilla and mandible. The rest of the skeleton was not affected. Histological examination of the lesions revealed solid proliferation of spindle-shaped cells associated with islands of osteid and bone trabecullae with Chinese letter pattern and numerous multinucleated giant cells consistent with fibrous dysplasia. The continued osteoblastic activity of involved bones, coupled with the medical condition of the patient, restricted the management of the patient to largely supportive and palliative care.- - - - - - - - - - ranking = 2keywords = mandible (Clic here for more details about this article) |
3/14. Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing.We report an unusual generalized skeletal syndrome characterized by fibro-osseous lesions of the jawbones with a prominent psammomatoid body component, bone fragility, and bowing/sclerosis of tubular bones. The case fits with the emerging profile of a distinct syndrome with similarities to previously reported cases, some with an autosomal dominant inheritance and others sporadic. We suggest that the syndrome be named gnathodiaphyseal dysplasia. The patient had been diagnosed previously with polyostotic fibrous dysplasia (PFD) elsewhere, but further clinical evaluation, histopathological study, and mutation analysis excluded this diagnosis. In addition to providing a novel observation of an as yet poorly characterized syndrome, the case illustrates the need for stringent diagnostic criteria for FD. The jaw lesions showed fibro-osseous features with the histopathological characteristics of cemento-ossifying fibroma, psammomatoid variant. This case emphasizes that the boundaries between genuine GNAS1 mutation-positive FD and other fibro-osseous lesions occurring in the jawbones should be kept sharply defined, contrary to a prevailing tendency in the literature. A detailed pathological study revealed previously unreported features of cemento-ossifying fibroma, including the participation of myofibroblasts and the occurrence of psammomatoid bodies and aberrant mineralization, within the walls of blood vessels. transplantation of stromal cells grown from the lesion into immunocompromised mice resulted in a close mimicry of the native lesion, including the sporadic formation of psammomatoid bodies, suggesting an intrinsic abnormality of bone-forming cells.- - - - - - - - - - ranking = 0.17360211899892keywords = jaw (Clic here for more details about this article) |
4/14. Paediatric management of endocrine complications in McCune-Albright syndrome.McCune-Albright syndrome was diagnosed at 2.5 years in a male, with a lower limb fracture and cafe-au-lait markings. Polyostotic fibrous dysplasia was treated with pamidronate for 4 years, with control of bone pain, improved quality of life, normal growth and visual fields monitored 4-6 monthly. Gonadotrophin independent precocious puberty occurred between ages 5-7 years but was slowly progressive, requiring no treatment. Bone age was 9 years at 7.5 years. From age 8-8.5 years, growth velocity increased further, with widening of spaces between teeth, acral enlargement, sweating and facial acne but no change in pubertal status (testes 6 ml, pubic hair Tanner stage I). Binasal field loss occurred. MRI demonstrated a bulging pituitary gland typical of adolescence, with no discrete tumour, with a markedly thickened calvarium and sphenoid. Bone age advanced from 9 to 12 years in 1 year. Basal growth hormone (GH) was 78 mIU/l, rising to 100 mIU/l with glucose tolerance test, basal IGF-I 2.4 IU/l, FSH <0.1 mIU/l, LH 0.1 mIU/l, testosterone 1.4 nmol/l. Treatment with octreotide LAR, flutamide and testolactone resulted in control of GH (12 mIU/l) and precocious puberty, slowing of growth, return to normal jaw size and tooth spacing, sweating, acne, facial appearance and restoration of full visual fields. Response demonstrated short-term efficacy of medical treatment and a remarkable capacity for facial remodelling in a child with acromegaly. Visual field change is attributed to reduction in soft tissue swelling around the optic foramina. Management issues concern long-term control of GH secretion, the impracticability of surgery in this patient and radiotherapy concerns in a young child.- - - - - - - - - - ranking = 0.024800302714131keywords = jaw (Clic here for more details about this article) |
5/14. Albright's syndrome with acromegaly and Hashimoto's thyroiditis: report of a case.The case of a 35-year-old woman with Albright's syndrome, acromegaly and Hashimoto's thyroiditis is presented. She had noted deformity of the left mandible and chest from childhood. She developed persistent galactorrhea and amenorrhea after the delivery of her second child. X ray of the skull, and a head CT, revealed a pituitary tumor and fibrous dysplasia of the left mandible, sphenoid, zygomatic bone and pteryoid plate. serum GH and PRL levels were markedly elevated. She received recontouring surgery of the left mandible, and a pathological examination confirmed the diagnosis of fibrous dysplasia. Chest X ray also showed fibrous dysplastic change of the left 4th, 5th, 6th and 7th ribs and left clavicle. Because of poor response to bromocriptine, she received a craniotomy to remove the pituitary macroadenoma. Pathological examination of the tumor revealed an acidophilic tumor. Postoperative radiotherapy was given for residual active tumor. She developed adrenal crisis two months after radiotherapy when she discontinued replacement therapy. The diagnosis of Hashimoto's thyroiditis was arrived at by palpation of the goiter, elevated thyroid antibodies, ultrasound pictures of the thyroid, fine needle aspiration cytology and hypothyroidism. To our knowledge, this is the first report of Albright's syndrome with Hashimoto's thyroiditis. The hypothesis of autoimmune disease is proposed to explain the hypofunction of the endocrine glands associated with Albright's syndrome.- - - - - - - - - - ranking = 3keywords = mandible (Clic here for more details about this article) |
6/14. Surgical treatment of nasal obstruction secondary to craniofacial fibrous dysplasia.Craniofacial fibrous dysplasia, a skeletal disorder most often affecting the mandible or maxilla, can cause a variety of complications. nasal obstruction secondary to this unusual disorder presents a diagnostic and therapeutic challenge. The nasal obstruction in this case is due to expansion of fibrous lesions in adjacent bones as well as direct involvement of the turbinates with fibrous dysplasia. We describe the surgical correction of nasal obstruction in this unique setting and present a brief update of this intriguing disorder.- - - - - - - - - - ranking = 1keywords = mandible (Clic here for more details about this article) |
7/14. Fibrous dysplasia and cherubism as an hereditary familial disease. Follow-up of four generations.Five cases of dysplasia of the jaws in one family which has been under our observation since 1970 are reported. The disease appeared as a mixed display of jaw lesions, in some members as fibrous dysplasia and in others as cherubism. We were able to trace the disorder through an unbroken line of four generations, and thus to demonstrate autosomal dominant inheritance. cytogenetic analysis performed on three members of this family revealed a significantly increased rate of chromosomal breakage.- - - - - - - - - - ranking = 0.049600605428263keywords = jaw (Clic here for more details about this article) |
8/14. Polyostotic fibrous dysplasia involving the maxilla and mandible: report of case.The case presented here represents an aggressive form of polyostotic fibrous dysplasia. Because of lack of evidence to substantiate precocious puberty and abnormal pigmentation, Albright syndrome cannot be established. Because of the nature of this disease, its clinical course and prognosis are unpredictable. However, it is believed that continued growth of the lesion may necessitate additional surgery.- - - - - - - - - - ranking = 4keywords = mandible (Clic here for more details about this article) |
9/14. Fibrous dysplasia of the jaws. Report of five cases.A brief review of the literature concerning fibrous dysplasia and fibro-osseous lesions of the jaws is presented. Five cases of fibrous dysplasia are described. The manner of presentation, diagnosis, histologic appearance, and treatment of this disease entity are discussed in light of previously published data. Histologically, two cases showed the "classic" features of woven bone in the fibrous stroma. The remaining three cases showed variable amounts of lamellar bone. The presence of lamellar bone is not considered incompatible with a diagnosis of fibrous dysplasia of the jaw, especially in older patients and in those in whom the lesion is of longer duration.- - - - - - - - - - ranking = 0.14880181628479keywords = jaw (Clic here for more details about this article) |
10/14. Surgical recontouring of a panfacial fibro-osseous deformity.A report of the surgical management of a patient with a panfacial fibro-osseous deformity resulting from fibrous dysplasia, hyperparathyroidism, or both, is presented as a sequel to a previous article discussing the initial work-up and diagnostic considerations. The literature pertinent to the surgical correction of fibro-osseous lesions irformed through an oral approach. Regrowth of the lesion after three years was minimal in the maxilla and approximately 20% in the mandible.- - - - - - - - - - ranking = 1keywords = mandible (Clic here for more details about this article) |
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