Spindle cell oncocytoma of the adenohypophysis is a rare tumour recently reported by Roncaroli et al. in 2002. This tumour is considered a grade I tumour by the World Health Organization. We describe what is, to the best of our knowledge, the 14th case of its kind in the literature. ...

Background: Dislocation of the sternoclavicular joint is a rare injury that has a low incidence of signifcant long-term symptoms. Surgical reconstruction of the joint is indicated in patients with symptomatic, chronic anterior instability or with irreducible or recurrent posterior instability. There have been many reported techniques for stabilization of the ...

A case of ossification of transverse ligament of atlas (TLA) is reported. A 76-year-old female suffered from a transverse type myelopathy was successfully treated by posterior decompression. Dynamic lateral plain radiographs showed irreducible atlantoaxial subluxation (AAS). A computed tomogram revealed ossified mass compatible to ossification of TLA. Coalition of the ...

Abnormal lower limb biomechanics is speculated to be a risk factor for Achilles tendinopathy. This study systematically reviewed the existing literature to identify, critique and summarise lower limb biomechanical factors associated with Achilles tendinopathy. We searched electronic bibliographic databases (Medline, EMBASE, Current contents, CINAHL and SPORTDiscus) in November 2010. All ...

Os acromiale is an unfused epiphysis of the anterior part of the acromion occurring in approximately 8% of the population. Infection of this joint has not been previously described in the literature. We report such a case in a 59-year-old woman presenting with shoulder pain. A high index of clinical ...

Virtually all the articles in literature addressed only a specific type of dislocation. The aim of this review was to project a comprehensive understanding of the pathologic processes and management of all types of dislodgement of the head of the mandibular condyle from its normal position in the glenoid fossa. ...

Inflammatory myofibroblastic tumours (IMT) are rare, challenging lesions with respect to differential diagnosis, biological behaviour and treatment. We reviewed the literature and report a unique case of a large (9×8×8cm) IMT in the nasal region of a 6-year-old girl responsible for important facial deformation. Following surgical resection, without any craniofacial ...

Parotid gland tumours are very heterogeneous, being benign in 80% of cases, and generally arising from epithelial cells. Nevertheless, a small group of non-epithelial tumours representing just 5% of all salivary gland neoplasms has also been reported, the most common of these being haemangioma, especially in children. However, lymphomas, neuromas, ...

To report a case of primary yolk sac (endodermal sinus) tumour (YST) of the vulva which is very rare and to highlight some unusual features of this tumour in the vulva. A 23-year-old woman presented with a 1-month swelling in the right labium majus that was non-tender and rapidly increasing ...

We report a case of a 17-year-old female who presented with a CNS primitive neuroectodermal tumour 12 years after cranial radiotherapy for relapsed childhood acute lymphoblastic leukaemia. In this article, we discuss the association of these rare tumours with previous craniospinal irradiation and review the pertinent literature.

We describe a case of a 76-year-old man with a giant ileal gastrointestinal stromal tumour (GIST) causing an intestinal subocclusion and a subsequent haemoperitoneum. During his hospital stay for a sudden hypovolemic shock, the patient underwent an urgent laparotomy and a 20 cm × 15 cm ruptured ileal GIST causing haemoperitoneum was found. Only ...

Glomus tumours are uncommon benign neoplasms characterised by the proliferation of modified smooth muscle cells known as glomus cells. Glomus tumours are well described in the extremities, particularly in the sub-ungual region and MRI is well established as the investigation of choice. However, a significant proportion of glomus tumours are ...

Idiopathic scrotal calcinosis is a rare benign disease characterized by multiple, asymptomatic and painless nodules on the scrotum. We herein report this rare disease in a Nigerian adult male and briefly review the relevant literature.

The dislocation of a shoulder joint in infancy is extremely rare and is usually the result of traumatic birth injuries, a sequel to brachial plexus injury, or a true congenital dislocation of shoulder. With more advanced obstetric care, the incidence of first two types has drastically decreased. We report a ...

We present the unusual case of a 20-year-old female nonsmoker with severe laryngeal dysplasia managed with endoscopic CO(2) laser resection with frozen-section analysis. We use her case as a platform for discussion of the current evidence surrounding laryngeal dysplasia, particularly etiology and the use of lasers in management. Laryngeal dysplasia ...

We report here on a 25-year follow-up of cranio-meta-diaphyseal dysplasia in a 31-year-old Caucasian male, who was reported in the literature at the age of 8 years [Langer et al. (1991); Skeletal Radiol 20:37-41]. He has hyperostotic craniofacial features with protruding lower jaw and midface hypoplasia. He has the typical ...

Objective: To report the case of a patient with polyostotic fibrous dysplasia of the cranium who showed dramatic improvement after treatment with intravenous zoledronic acid.Methods: We present the clinical findings, laboratory test results, surgical pathology report, and imaging studies of a man with extensive fibrous dysplasia of the cranium and ...

Malignant fibrous histiocytoma (MFH) is a frequently occurring soft tissue tumour with aggressive biological behaviour. Primary MFH of the spleen, however, is an exceedingly rare occurrence. Herein, we report a case of such a neoplasm in a 66-year-old female. The tumour was well localised within the spleen and the patient ...

Congenital fibrosarcoma (CFS) is a rare soft tissue tumour that usually occurs before the age of 1, and involves the distal extremities. The literature regarding the precise diagnosis and treatment of these tumours is limited. We present and discuss a case of CFS which ended fatally due to lung metastasis ...

Craniopharyngiomas are histologically benign epithelial tumours arising from squamous epithelial remnants of Rathke's pouch, which have a tendency to invade surrounding structures and recur after apparently complete resection. They represent the most frequent non-glial tumour in children, accounting for approximately 5% of paediatric brain neoplasms. Total resection of a craniopharyngioma ...

A rare case of phyllodes tumour arising in the seminal vesicle is reported here. A 59-year-old male presented with lower abdominal discomfort and symptoms of bladder outlet obstruction for 1 year. Transrectal ultrasonography and pelvic computed tomography and magnetic resonance imaging demonstrated a large mass posterior to the bladder and ...

Fibrous cortical defect, also known as metaphyseal fibrous defect and nonossifying fibroma, among other terms, is a benign, non-neoplastic proliferative process that is relatively common in the long bones of skeletally immature adolescents. Although the lesion is thought to be a developmental abnormality or defect, the exact etiopathogenesis is largely ...

The objective of our study was to evaluate the usefulness of immunohistochemical (IHC) staining techniques in the etiological diagnosis of non-immune hydrops fetalis (NIHF). The records of all 1,098 autopsies performed between January 1987 and May 2008, by the Division of Fetal Pathology of the University of Genoa, were reviewed ...

Craniofrontonasal dysplasia (CFND) is a rare developmental anomaly associated with an X-linked inheritance. It is predominantly expressed in females. A Chiari malformation (CM) has not been reported in such patients earlier. The authors report on a family with 3 female members who have marked and generalized CFND. The generalized bone ...

Cleidocranial dysplasia (CCD) is a rare disorder which is inherited as an autosomal genetic trait. It is characterized by defective ossification, delayed bone and tooth development, stomatognathic and craniofacial abnormalities, and it is caused by mutations in the RUNX2 gene that is responsible for osteoblast differentiation. The purpose of this ...

Idiopathic myelofibrosis is a rare chronic myeloproliferative disease leading to extramedullary hematopoiesis (myeloid metaplasia) with splenomegaly. The liver and less frequently other organs including the lung can be involved, therefore portal hypertension is relatively common. Pulmonary hypertension (PH) is only occasionally reported, although recent studies have suggested an association between ...

Dentin dysplasia is a rare hereditary disturbance of dentin formation characterized by defective dentin development with clinically normal appearing crowns, severe hypermobility of teeth and spontaneous dental abscesses or cysts. Radiographic analysis shows obliteration of all pulp chambers, short, blunted and malformed or absent roots and peri-apical radiolucencies of non ...

We report an extremely rare case of schwannoma of the auricle. A case report and review of the world literature concerning schwannoma of the auricle are presented. Schwannoma is a benign, encapsulated, slow-growing neoplasm. Approximately 25-45% of all schwannomas occur in the head and neck, whereas schwannomas of the external ...

Malignancy in struma ovarii is a rare form of ovarian germ cell tumour. Because of its rarity, the diagnosis and management of the tumour have not been clearly defined. We present a case of 67- year-old female with papillary carcinoma arising in struma ovarii and review the literature on malignancy ...

Benign fibrous histocytoma of bones is a very rare tumour and only a few cases have been reported. We report a case of 40-year-old patient with no significant previous medical history who presented with a painful lesion in his right wrist joint. Incision biopsy was done and there was a ...

Calcifying epithelial odontogenic tumour (CEOT) is a rare and benign odontogenic neoplasm that affects the jaws. Here we present a maxillary case of CEOT showing features of malignant transformation, and a review of the literature.

We describe a rare case of small bowel infarction due to fibro muscular dysplasia in superior mesenteric artery in a young patient. A 28 year old Asian female presented with acute onset left sided abdominal pain and watery diarrhea. She had a laparotomy due to further deterioration. It showed infracted ...

The following report describes a case of mild frontonasal dysplasia, a rare congenital anomaly affecting the nose and frontal bone. Our patient was referred at 2 months of age with a complex nasal skin and tip deformity. This report outlines management of this patient and reviews the literature with regard ...

We describe two cases of chorioretinal dysplasia and microcephaly and review the current literature regarding this topic.

Dysplasia epiphysealis hemimelica (DEH) or Trevor's Disease is a very rare disease with an estimated incidence of one in 1.000.000. The majority of cases reported affect the lower limb and only 25 case reports of 33 cases with affection of the upper limb have been published. Here we present a ...

The presence of multiple esophageal polyps on endoscopy is a rare entity. Most of the literature cited on this phenomenon is based on case reports and small series. A large proportion of the literature describes one or two polyps, with the majority of polyps occurring in the area of the ...

Oral epithelial dysplasia (OED) is a premalignant lesion which has an unpredictable course of progression. Its management has remained controversial due to a lack of high-quality prospective studies evaluating the different treatment modalities.1 We present a patient with a long history of OED which subsequently transformed into malignancy. The clinical ...

Frontofacionasal dysplasia (FFND) is a rare group of disorders, characterized by ocular hypertelorism and frontonasal process anomalies in which clinical and etiological heterogeneity have been recognized since the first review by Gollop 1981.1 Frontofacionasal dysplasia is inherited as an autosomal recessive genetic trait. We report on a 10 month old ...

Temporomandibular joint dislocation is not a common presentation to the emergency department but it is one that requires prompt diagnosis and reduction. This is thought to be the first reported case of spontaneous bilateral temporomandibular joint dislocation after routine pulmonary function testing. The management of the case is discussed and ...

BACKGROUND: Both fibrous dysplasia (FD) and ameloblastoma are benign but locally aggressive tumours of the craniofacial region. In this case report, we present the unique synchronous occurrence of these two tumours in the facial skeleton. CASE REPORT: A 16-year-old woman presented with complaints of swelling of the upper right face ...

Ectodermal dysplasia is a hereditary syndrome characterized by dysplasia of tissues of ectodermal origin (hair, skin, nails, and teeth) and occasionally, dysplasia of mesodermally derived tissues. The triad of nail dystrophy (onychodysplasia), alopecia, or hypotrichosis (scanty, fine, light hair on the scalp and eyebrows) and palmoplantar hypohidrosis is usually accompanied ...

Epilepsia partialis continua (EPC) is a rare form of focal motor status epilepticus. There is typically a predilection for facial and distal limb involvement, but rarely trunk or abdomen muscles may be affected. Rarely, EPC may also present in association with cortical dysplasia. In this report, we describe the clinical, ...

We report a case of hemimaxillofacial dysplasia followed in our clinic for 34 years. A recent literature review has brought to our attention that the subject may have a variant of hemimaxillofacial dysplasia, but with some unique features. The reconstruction procedures are detailed, and long-term follow-up findings are described.

BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. It is caused by mutations of the transcription factor RUNX2, which is known as a major regulator of bone differentiation. OBJECTIVE: To report on 3 ...

Anatomic variations in the insertion of the long head of the biceps tendon and superior labral complex have been described (Erickson et al. [1992] AJR Am. J. Roentgenol. 158:1091-1096; Kreitner et al. [1998] AJR Am. J. Roentgenol. 170:599-605; Mariani et al. [1997] Arthroscopy 13:499-501; Vangsness Jr. et al. [1994] J. ...

OBJECTIVES: To evaluate the principal features of focal cemento-osseous dysplasia (FocCOD) by systematic review (SR) and to compare their frequencies between four global groups. METHODS: Alternative names for FocCOD were used as search terms. The databases searched were the PubMed interface of Medline and LILACS (Literature Index for Latin-America and ...

OBJECTIVES: The aim of this study was to correlate the imaging features with surgical histology for tibial osteofibrous dysplasia (OFD), osteofibrous dysplasia-like adamantinoma (OFD/LA) and classical adamantinoma and to determine the additional role of imaging in suggesting a correct diagnosis in cases of needle biopsy misdiagnosis. MATERIALS AND METHODS: This ...

BACKGROUND: Most cases of generalized hyperostosis of the skull are associated with Camurati-Engelmann disease, craniodiaphyseal dysplasia, Worth-type endosteal hyperostosis, or sclerosteosis. Infrequently, a Chiari malformation may also be described. We present the case of a patient with acquired Chiari malformation secondary to hyperostotic skull formation whose findings did not fit ...

Chiari malformation is commonly considered a congenital condition. To our knowledge, reports of progressively symptomatic Chiari Iota malformation with craniometaphyseal dysplasia are rare. The authors present a case of progressively symptomatic Chiari Iota malformation occurring in an 11-month-old infant with craniometaphyseal dysplasia. The patient presented with a typical facial appearance ...

Metatropic dysplasia (MD-OMIM: 156530 and 250600) is a rare chondrodysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis, first described in 1893. Up until now, 81 other patients have been reported. The phenotypic variability of MD has led to a classification based on radiological ...