[Cushing's syndrome due to a pulmonary carcinoid]. / Syndrome de Cushing révélateur d'un carcinoïde pulmonaire.

Cushing paraneoplasic syndrome is a rare cause of hypercorticism. We report a case of 35 year-old man presenting with Cushing's syndrome characterized by severe signs of hypercorticism and hypokalemia. Endocrine investigations were suggestive of an hypercortisolism linked to an ectopic adrenocorticotropic (ACTH) secretion, both at baseline (mean ACTH levels=275 pg/ml, urinary free cortisol excretion=3.898 mmol/24 h) and after pharmacodynamic testing (lack of inhibition of ACTH by dexamethasone). Thoracic tomodensitometric examination revealed a 15 mm tumor corresponding to a neuroendocrine pulmonary carcinoid with positive immunostaining for chromogranin A. Postoperative ACTH measurement was undetectable, plasma cortisol and free urinary cortisol were also decreased after tumor resection suggesting complete tumor removal. This case report illustrates the characteristics of paraneoplasic Cushing syndrome due to ACTH secreting pulmonary neuroendocrine carcinoid.

[Gaucher's disease. Substitutive enzymatic treatment in one case and a review of the literature]. / La maladie de Gaucher. Traitement enzymatique substitutif à propos d'un cas avec revue de la littérature.

Gaucher's disease, rare, hereditary and potentially mortal affection is characterized by the reduced concentration of the glucocerebroside lipid within the macrophage lysosomes. We report the case of a young 2 years old patient treated by transfusion since he was 9 months because of chronic anemia. According the clinical examination, the general state of the patients was bad ith important delayed stanturoponderal growth, a cutaneomucous paller and enormous splenomegaly. The blood count formula showed anemia with major thrombopenia. The myelogram was poor and the osteomedullar biopsy showed the presence of Gaucher's cells. The diagnosis has been confirmed by enzymatic dosage (Leucocytar b-glucosidase). The treatment of the patient has been substitutive enzymatic (inifucerase) with very favorable response. During Gaucher's disease, the enzymatic deficiency results in the pathologic accumulation of the substrate (glucocerebroside) in the lyososomes, this metabolic overloading may cause polyvisceral disease with spontaneous evolution ofter mortal. The recent discovery of a recombining glucocerebrosidase (imiglucerase) transformed the prognosis of this disease.

[Clinicopathological discordance for lesions of the oral mucosa]. / Discordance entre le diagnostic clinique et anatomo-pathologique des lésions de la muqueuse buccale.

BACKGROUND: The oral cavity is the site of various oral mucosal lesions. The physical examination must be completed by a pathology examination in order to establish a final diagnosis. The objective of our study was to investigate the discordance between clinical and pathological findings concerning lesions oral mucosa. MATERIAL AND METHOD: This study was a cross-sectional epidemiological investigation involving 21 patients seen during a 16-month period. RESULTS: Statistical analysis demonstrated 17 cases of agreement (81%) and 4 cases of discordance (19%) between the clinical diagnosis and pathology diagnosis. DISCUSSION: Such discordance can be operator-dependent or related to sample procurement or handling.

[Primary non-Hodgkin lymphoma of the mandible: apropos of three cases]. / Lymphome non hodgkinien mandibulaire primitif. A propos de trois observations.

BACKGROUND: Primary non-Hodgkin lymphoma is rarely located in bony tissue, observed in only 5% of primary bone tumors and 4-6% of extranodal non-Hodgkin lymphomas. The mandibular localization is exceptional (0.6%). Clinical and histological features may be misleading, raising the risk of late diagnosis. Chemotherapy and radiotherapy are required. CASE REPORTS: We report three cases of primary non-Hodgkin lymphoma of the mandible diagnosed between 1993 and 2000. All patients were males, aged 9, 37, and 45 years. Mean delay to diagnosis was 8 months. The inaugural complaint was a painful mass of the mandible in all patients. The histomorphology study and immunohistochemistry established the diagnosis. Two patients had diffuse large B cell non-Hodgkin lymphoma, the third anaplastic non-Hodgkin lymphoma. All patients were staged IE and given chemotherapy, associated with radiotherapy in one case. All patients achieved complete remission and continued to be in good health during follow-up lasting from 1 to 9 years.

[Primary malignant melanoma of the cervix uteri: apropos of 1 case with review of the literature]. / Mélanome malin primitif du col utérin: à propos d'un cas avec revue de la littérature.

The authors report a case of malignant melanoma of the cervix uteri diagnosed in a young 35-year-old patient. Isolated genital bleeding was the beginning symptom. The physical exam showed a cervical dark tumor, with extension into the vagina (superior third), the parametrium was free. Cervical biopsy concluded to a malignant melanoma. No other abnormalities were observed and the tumor was classed stage IIA-FIGO. A total hysterectomy with bilateral annexectomy and pelvic lymphadenectomy was performed. In the way, the patient died after ten months by local and general recurrence. Primitive malignant melanoma of the cervix uteri is rare. Only 39 cases are reported in literature at this day. It is usually initially misdiagnosed mainly in the achromic forms, then the immuno-histochemical study is useful. Its treatment is not well codified and its histogenesis was controversial for a long time.

[A case of facial fibrous dysplasia in brothers]. / A propos d'un cas de dysplasie fibreuse faciale dans une fratrie.

Fibrous dysplasia is a benign bone tumor. The cranio-facial localization concern 20% of fibrous dysplasia. A congenital etiology is evoked by all the authors. Our observations ask for the real etiology of this affection: Congenital? Familial? The diagnosis is done by anatomo-pathology, and surgery is the treatment for severe cases. Relapses are frequent.