Gnathodiaphyseal dysplasia with a novel R597I mutation of ANO5: Mandibular reconstruction strategies.

Gnathodiaphyseal Dysplasia (GDD) is a rare, often misdiagnosed, autosomal-dominant disorder due to point mutations in the ANO5 gene. GDD combines craniofacial fibro-osseous lesions, dental loss and progressive curvature and cortical thickening of long bones and vertebra, causing pathological fractures. Diagnosis is based on bone pathology and mutation screening. Here we report three GDD cases within a single family with a novel ANO5 mutation: c.1790 G > T (p.Arg597Ile, i.e. R597I) on exon 16. Microsurgical mandibular reconstructions were performed in the three cases. We reviewed the literature on jaw reconstruction in this condition and discussed the challenges of craniofacial reconstruction in GDD due to the diffuse bone anomalies affecting potential flap donor zones and a specific risk for jawbone osteomyelitis.

[Multiple Bowen disease of the lower limbs in elderly women: a rare clinical subset involving therapeutic difficulties]. / Maladies de Bowen multiples des membres inférieurs chez les femmes âgées : une forme clinique particulière et de traitement difficile.

BACKGROUND: Cutaneous Bowen's disease (CBD) is a form of intraepithelial squamous cell carcinoma that usually presents as a solitary lesion. We report four similar cases of a peculiar and well-delimited clinical subset of multiple Bowen's disease seen in the lower limbs in elderly women and associated with specific therapeutic problems. OBSERVATIONS: Four women aged over 70 years presented with multiple CBD limited to the lower limbs associated with squamous cell and superficial basal cell carcinomas along with actinic keratosis. No significant aetiological factors were present apart from chronic sun exposure other than one case possibly involving immunodeficiency. The four patients were treated using photodynamic therapy, and partial clinical response and good tolerance were observed. DISCUSSION: These four cases share numerous clinical similarities: elderly women, markers of chronic sun exposure, lack of other aetiological factors such as arsenic or irradiation, localization of the lesions (multiple and/or continuous layer pattern, restricted to the lower limbs in all cases) and a chronic course. The frequency of this subset is probably underestimated due to absence of biopsies or to inconclusive histology reports. Photodynamic therapy yields valuable results with a good efficacy/safety ratio compared to imiquimod or 5-fluorouracil. However, while this treatment could be considered a first-line option in multiple CBD, its therapeutic value requires more detailed evaluation.

[Diagnosis and treatment of soft-tissue tumors]. / Prise en charge des tumeurs des parties molles de l'appareil locomoteur de l'adulte.

The diagnostic and therapeutic management of patients with soft-tissue tumors would be similar to the approach used for bone tumors if it were not for one crucial factor: the absolute necessity to recognize a sarcoma. The predominant features are the size of the tumor and its superficial or deep localization. If the tumor is small and superficial, biopsy can be associated with immediate resection without risk of dissemination to the deep tissues: this is the biopsy-resection approach. If the tumor is deep or superficial but large sized, search for locoregional spread with MRI is necessary before undertaking any surgical procedure. MRI can help guide the biopsy and plan resection if the tumor is a sarcoma. A first biopsy is necessary to establish the histological diagnosis and elaborate the therapeutic strategy. Samples should be sent immediately to the pathology lab which should examine sterile fresh tissue. Experience has demonstrated that proper rules for diagnosis and treatment are not necessarily applied initially in approximately one-fourth of all subjects with a malignant soft-tissue tumor. Besides the medical problems caused by this situation, the patient loses a chance for cure. When the tumor is a sarcoma, surgery is the basis of treatment. Complementary radiation therapy may be necessary, particularly for high-grade tumors or if the surgical margin was insufficient. Systemic or locoregional chemotherapy can also be used for high-grade or non-resectable tumors.

Secondary localisation of an intra-thoracic benign mesenchymoma in the fossa poplitea: a rare paediatric case.

Thymomas are tumours that rarely occur in children, are almost invariably benign, and are usually discovered incidentally in the anterior mediastinum on chest X-rays. Whereas in adults these tumours are often associated with myasthenia gravis and other autoimmune diseases, this occurrence is very rare in the paediatric population. Multiple localisation and/or extra-thoracic recurrence of thymomas in children also appears to be exceptional with no reported cases in the English literature. We report one rare paediatric case.

[Familial dyskeratotic comedone]. / Dyskératose comédonienne familiale.

INTRODUCTION: Familial dyskeratotic comedones is a rare affection of autosomal transmission and characterized by pseudo-comedone papules predominantly on the limbs. We report a new familial case characterized by its clinical and histological profile. CASE REPORT: A 6 year-old boy presented with a papular, pseudo-comedone eruption that had appeared shortly after birth and had progressively extended symmetrically to both legs. The child's father complained of a similar eruption since childhood. Histological examination of the papules revealed a pseudo-follicular invagination, obstructed by keratin and associated with areas of focal dyskeratosis. Treatment with local retinoids was ineffective. DISCUSSION: Since it is often asymptomatic, the prevalence of dyskeratosis comedones is probably underestimated. A review of the literature on the preceding observations is presented. The dermatites that would represent differential diagnoses because of the presence of comedone-like lesions and/or histological dyskeratosis are discussed.

The synovial fold of the humeroradial joint: anatomical and histological features, and clinical relevance in lateral epicondylalgia of the elbow.

The synovial fold of the humeroradial joint is known, and sometimes considered as a meniscus that could be injured by chronic repeated trauma related to pronation and supination. The aims of this study were to determine the gross anatomy and histological structure of this fold, and to clarify its participation in the painful lateral syndromes of the elbow. Fifty elbows from adult cadavers were dissected. The capsule of the humeroradial part of the elbow joint was resected with the annular ligament. The presence of a synovial fold, and its location relative to the cranial edge of the annular ligament divided into five sectors (ventral, ventrolateral, lateral, laterodorsal and dorsal) were noted; morphological parameters such as thickness, width and length were measured. The histological examination determined the structure of the folds. Five synovial folds were resected during surgery for epicondylalgia in five patients who suffered from pain precisely at the level of the joint between the capitulum and the fovea radialis, and were also examined. A fold was present in 43 cases, and in two cases two folds were seen at the deep side of the junction between the capsule and the annular ligament. The most frequent positions were: dorsal ( n=11), laterodorsal and dorsal ( n=6;), lateral to dorsal ( n=5), lateral ( n=5), ventral ( n=4) and circular ( n=4). The mean length was 21.4 mm (range from 9-51 mm). The mean width was 2.9 mm (range 1-10 mm), and the mean maximal thickness 1.7 mm (range 1-4 mm). The histological study showed two types of folds: a rigid structure, with oriented fibrous tissue, triangular with a peripheral capsular base, covered on its two sides and along the free edge by a synovial layer; and a pliable structure, formed of two synovial layers that surrounded a thin fatty tissue, with a villous appearance of the free edge. No fibromyxoid structure, as in a real meniscus, was observed. Some nerve fibers were seen in the folds. The five folds resected in operated patients were hypertrophic, and showed an increased number of nerve fibers, along the capsule but also close to the synovial layer. Some painful syndromes of the lateral side of the elbow are not related to tendinitis or to posterior interosseous nerve compression, but have an intra-articular origin. This study showed that the synovial fold is not a meniscus, and may be involved in the etiology of lateral epicondylalgia.

[Chronic recurrent multifocal osteomyelitis of the mandible. A case report]. / Ostéomyélite chronique multifocale récurrente. A propos d'un cas de la mandibule.

UNLABELLED: Chronic recurrent multifocal osteomyelitis (CRMO) is a disorder rarely localized to the lower jaw. CASE REPORT: A fourteen-year-old boy complained of a swollen of his lower jaw. After a CT Scan, a bone biopsy was performed and yielded S. oralis against which an adapted intravenous antibiotherapy was administered without efficacy. The absence of malignant process and the revelation of an other focus of fixation at the Tc bone scan localized on humerus called to mind the diagnosis of CRMO. CONCLUSION: The diagnosis of this disease is difficult and based on a number of concording arguments:clinical and radiological signs of osteomyelitis, multifocal presentation, recurrent relapses and remissions, inaction of antibiotics, elimination of the other differential diagnosis, in particular the infectious osteitis.

[Primary intraosseous rhabdomyosarcoma]. / Rhabdomyosarcome intra osseux primitif.

We report a case of primary intraosseous pleiomorphic rhabdomyosarcoma located in the pelvis of a 21-year-old woman followed for 4 years. The lytic tumor involved the acetabulum and the isthma with moderate extension to soft tissue. First line chemotherapy was unable to arrest tumor progression. Hemipelvectomy with saddle prosthesis reconstruction was performed, but septic complications dictated a secondary inter-ilio-abdominal amputation. Recurrence-free remission was achieved for 4 years, suggesting this was indeed a primary tumor. Primary intraosseous rhabdomyosarcomas are exceptional. Bone localizations generally suggest metastasis from a primary tumor often situated in an intraperitoneal localization. When search for a primary tumor is negative, intraosseous lesions can be considered as primary tumors warranting curative treatment. Radical surgical resection is recommended within the framework of a multidiscipinary management protocol associating radiotherapy and chemotherapy to improve prognosis.

Evolution of chronic recurrent multifocal osteitis toward spondylarthropathy over the long term.

OBJECTIVE: To retrospectively assess, with a sufficiently long followup (mean 11.6 years; median 9 years), the long-term outcome of chronic recurrent multifocal osteitis (CRMO), a multifocal, inflammatory bone disease. METHODS: Patients included were 8 children/adolescents and 7 adults with no family history of rheumatic disease who had been diagnosed as having CRMO between 1979 and 1995. Ten patients had undergone at least 1 bone biopsy of the lesions, with histologic examination and multiple cultures. In 1996, in addition to an in-depth interview, 12 patients underwent an extensive physical examination, laboratory evaluation, HLA-A, B, C, and DR typing, bone radiography and scintigraphy, and computed tomography scan of the sternoclavicular and sacroiliac joints. RESULTS: Remission was observed in 3 patients. The other 12 patients developed various associations of vertebral (n = 10), sacroiliac (n = 6), anterior thoracic (n = 7), peripheral articular (n = 2), enthesopathic (n = 4), or dermatologic (palmoplantar pustulosis in 3 cases and psoriasis in 2) involvements. Spine involvement was the most common and occurred the earliest (median time to appearance after the onset of osteitis 5.63 years). Clinical sacroiliitis was always unilateral. No patients carried the HLA-B27 haplotype. CRMO responded well to nonsteroidal antiinflammatory drugs. Twelve patients met the European Spondylarthropathy Study Group criteria for spondylarthopathy. CONCLUSION: After 10 years, CRMO had usually evolved to spondylarthropathy, but with certain features not usually seen in the latter: predominantly, unilateral sacroiliitis, no familial form, and no link with HLA-B27.

Chronic destructive oligoarthritis associated with Propionibacterium acnes in a female patient with acne vulgaris: septic-reactive arthritis?

Propionibacterium acnes is an anaerobic bacillus implicated in certain chronic arthritides. This report describes an HLA-B27+ 17-year-old woman with acne vulgaris who presented with rapidly destructive arthritis in the left shoulder as well as an evolving left subclavicular adenopathy. One year later, arthritis was detected in the left knee; the inflammatory synovial fluid was sterile. Growth of P acnes was observed in cultures of the shoulder synovium and lymph nodes, but polymerase chain reaction was negative for Borrelia, Chlamydia, and Ureaplasma DNA. Three months of treatment with amoxicillin and rifampicin led to clinical disappearance of the oligoarthritis, but arthritis recurred in the left knee after discontinuation of therapy. On biopsy, bacteria were undetectable in the knee synovium, but chronic arthritis was evident histologically. Antibiotics were reintroduced for 12 months and were again effective against the clinical symptoms. Although the asymmetry, histologic features, arthritis-acne association, and genetic predisposition of this chronic destructive oligoarthritis would seem to indicate a reactive arthropathy, the isolation of P acnes from 2 distinct specimens prompted us to propose calling this a case of septic-reactive arthritis, which is further supported by the absence of progression after antibiotic therapy and the persistence of the rheumatism. To our knowledge, this is the first demonstration of the efficacy of prolonged antibiotic therapy on the joint manifestations of chronic rheumatism associated with acne.

Taenia crassiceps invasive cysticercosis: a new human pathogen in acquired immunodeficiency syndrome?

A fluctuant, painful, subcutaneous, and intermuscular tumor developed in a 38-year-old man with severe acquired immunodeficiency syndrome (AIDS) in which immunodeficiency was severe. Surgery revealed lesions that formed a multilocular pouch embedded in deep tissues in the forearm filled with tapiocalike material containing a viscous fluid, granules, and cysticercilike small vesicles. Pathologic and parasitologic evaluation showed cysticerci embedded in a fibrocollagen reaction with inflammatory granulomatous reaction. Each cysticercus contained an invaginated scolex with two rows of small (i.e., 80 microm) and large (i.e., 114 microm) rostellar hooks, identical to larva of Taenia crassiceps. All clinical, parasitologic, and pathologic features of these cysticerci were very different from those of all other larval cestode (i.e., Taenia solium cysticercosis, coenurosis, sparganosis, cysticercosis due to Taenia saginata [Cysticercus bovis], primary and secondary hydatidosis [Echinococcus species]). T crassiceps cysticerci usually develop in subcutis and pleuroperitoneal cavities of rodents, whereas the adult tapeworm is commonly found in the digestive tract of foxes. Biologic properties of T crassiceps cysticerci and epidemiologic characteristics of pandemic human immunodeficiency virus (HIV) could eventually indicate new potential cases of T crassiceps cysticercosis in humans.

Spinal abscess and spondylitis due to actinomycosis.

STUDY DESIGN: Report of a rare case of spinal actinomycosis in a young immunocompetent woman. OBJECTIVE: To show the difficulties in diagnosing spinal actinomycosis. SUMMARY OF BACKGROUND DATA: Spinal actinomycosis is rare and usually occurs as a result of a contiguous (abdominal, pelvic, or thoracic) spread of the infection. This localization represents less than 5% of the infectious sites and was mainly, before the penicillin era, a postmortem discovery. METHODS: A case is reported of a 34-year-old Algerian woman who had fever, persistent cough, right-side thoracic pain, and progressive severe back pain. Radiographs, computed tomographic scan, and magnetic resonance imaging demonstrated lytic areas on the vertebral bodies of T11 and T12 and a paravertebral mass, without disk involvement. A surgical biopsy of T12 and the paravertebral abscess was performed. RESULTS: Presence of characteristic sulfur granules and gram-positive filamentous bacteria in surgical biopsy tissues and isolation of Actinobacillus actinomycetemcomitans in cultures led to the diagnosis of vertebral actinomycosis. The patient was virtually free of pain and fever after a 3-month regimen of ofloxacin and rifampicin (Rifadine, Marion-Merell, France) and was without recurrence after 18 months of follow-up. CONCLUSIONS: Actinomycosis of the spine, caused by the spread of a paraspinal abscess, is extremely rare. The previously poor prognosis has been transformed by antibiotics.

[Malignant transformation of multiple chondroma. Apropos of a case]. / Transformation maligne des lésions d'enchondromatose multiple. A propos d'un cas.

Malignant transformation of multiple chondromas observed in Ollier's disease is a well known possibility. In the clinical case of a 52 year old woman reported here, the sarcomatous transformation of two endochondromatous foci occurred successively in less than one year. One was located in the calcaneus, the other within the proximal metaphysis of the ipsilateral fibula. This case is worth reporting for two reasons: the successive occurrence of these sarcomatous lesions led to a amputation below the knee, later completed by an extended radical resection of the fibula. This combination allowed to preserve the knee with a good functional result and without local recurrence, this clinical case may be compared with that reported by Goodman in 1984. Both cases show that sarcomatous transformations may occur almost simultaneously after a long quiscent period and suggest the existence of a factor that could trigger or favor a malignant transformation process.

Leiomyosarcoma of the tibia. Report of a case.

A 48-year-old man with an unremarkable medical history was admitted for a painful swelling over the anteromedial aspect of his right leg. Radiographs disclosed heterogeneity of the proximal tibia, with increased uptake on the bone scan. Computed tomography findings consisted of heterogeneity of the proximal tibial metaphysis and diaphysis with subtle cortical osteolysis, periosteal appositions and soft tissue involvement. Magnetic resonance images showed low signal from the metaphysis, diaphysis and soft tissues on T1 sections that enhanced after gadolinium and converted to high signal on T2 images. Lung metastases were also found. Histologic features were consistent with leiomyosarcoma, which was considered to have originated in the tibia since no other primary localization was found. Combination chemotherapy was successful in eliminating the clinical manifestations and clearing the lung metastases. Six months later, the same chemotherapy regimen failed to improve a local and pulmonary recurrence and the patient died a few months later. Primary leiomyosarcoma of bone is a rare tumor, of which one of the most characteristic locations is the proximal third of the tibia. Magnetic resonance imaging with both T1- and T2-weighted sequences is essential to evaluate intramedullary and soft tissue tumor spread. To our knowledge, there are no characteristic signal patterns allowing to differentiate leiomyosarcoma from other primary malignancies of bone. Immunohistochemical and electron microscope studies are useful diagnostic tools.

[Jaffe-Campanacci syndrome. Report of a case]. / Syndrome de Jaffé-Campanacci. A propos d'un cas.

Jaffe-Campanacci syndrome is a rare entity characterized by disseminated non ossifying fibromas in association with extraskeletal congenital anomalies: cutaneous, genital, ocular and cardiovascular. Mental retardation is also frequently observed. Pathological fractures are the usual mode of revelation. We report one case original because of causal discovery during orthodontic check-up and because of extraskeletal anomalies not previously described. In fact the true incidence of this syndrome is probably underestimated because of unrecognized features.

[Clear cell sarcoma of the tendons and aponeuroses]. / Sarcome à cellules claires des tendons et aponévroses.

BACKGROUND: Clear cell sarcoma of tendons and aponeuroses is a rare mesenchymal tumor in childhood. It is difficult to treat and its prognosis is bad. CASE REPORT: A 9 year-old girl was admitted because of persistent pain in the left lower part of her thorax. Clinical examination showed a mass, 4 cm in diameter, embedded in the thoracic wall. Ultrasonography and CT-scan showed that this mass extended between the last ribs to the pleural cul-de-sac. There was no adenopathy and myelogram was normal. Biopsy of the mass showed features of clear cell sarcoma of tendons and aponeuroses. Cytogenetic studies showed translocation t(12;22) (q13-14;q12) in tumor cells. The patient was given chemotherapy followed by complete resection, but the tumor recurred locally 3 months later and the patient died, despite chemotherapy plus radiotherapy, 23 months after the apparent onset of disease. CONCLUSION: Treatment of this type of tumor remains difficult. The existence of a break point on 22q12, as in Ewing sarcoma, suggests that this tumor in of neural crest cell origin.

Treatment of multiple myeloma with etidronate: results of a multicentre double-blind study. Groupe d'Etudes et de Recherches sur le Myélome (GERM).

OBJECTIVES: Because osteoclastic bone resorption is stimulated in multiple myeloma, we evaluated the efficacy of etidronate in this disease, in a multicentre controlled study. METHODS: Ninety-four previously untreated patients with stage II or III multiple myeloma received, in addition to the same chemotherapy, 10 mg/kg/day etidronate per os (n = 49) or placebo (n = 45) for 4 months. The evaluation was clinical (pain, Karnofsky, survival), biological and radiological. Forty-one patients had iliac bone biopsy before the treatment and 34 patients also at the end of the study. Histologic bone parameters were compared with 49 normal controls. RESULTS: No statistical difference was found between etidronate and placebo treated patients for clinical, biological and radiological parameters. Compared with controls, pretreatment biopsies showed markedly increased bone resorption and decreased trabecular bone volume. Bone resorption decreased significantly in patients with etidronate compared with those with placebo (p < 0.05). CONCLUSION: Though we found no clinical, biological and radiological difference with placebo, etidronate inhibited the increased bone resorption in multiple myeloma.