A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.

Dental agenesis is either syndromic or non-syndromic. Here, we describe a familial case with Carvajal/Naxos syndrome associating woolly hair, palmoplantar keratoderma, and biventricular dilated cardiomyopathy. In addition to these signs, all three affected family members had hypo/oligodontia ranging from absence of the lower left second molar to 15 missing teeth, the typical pattern of oligodontia being absent 2nd premolars and absent 2nd and 3rd molars. Mutation screening in the desmoplakin gene (DSP) revealed a de novo missense mutation (c.1790 C>T, p.Ser597Leu) changing a serine residue conserved in all vertebrates. In addition, this variation was absent from 100 control DNA samples. There were no mutations in the plakoglobin gene. This familial case report and two other previous reports demonstrate that autosomal-dominant mutations in the DSP gene are associated with hypo/oligodontia in the setting of Carvajal/Naxos syndrome. This study suggests that dentists discovering oligo/hypodontia should screen for woolly hair and palmoplantar keratoderma because of the probable cardiac involvement with an inherent high risk of severe cardiomyopathy. In addition, this study reveals the role of desmosomes in the development of teeth and suggests that other genes encoding proteins of the desmosome could be involved in oligo/hypodontia.

[Benign metastatic ameloblastoma. A case report and review of the literature]. / Améloblastome bénin métastatique. Présentation d'un cas et revue de la littérature.

A 78 year old woman with a history of maxillary ameloblastoma from age of 38 years was found on routine examination to have a pulmonary image of the balloon release type. The lesion was atypical with respect to its clinical tolerance and slow progression. Pathology of several nodules removed by surgical lung biopsy confirmed the benign nature and identity of the maxillary and pulmonary lesions. The diagnosis was therefore pulmonary metastases from a benign ameloblastoma. The age of the patient and slow course of the lesion, combined with the absence of any functional disorder, was the basis for the decision not to operate on the pulmonary lesion. The concept of benign metastatic ameloblastoma is analyzed and findings compared with data in the literature.

[Pulmonary metastasis of an ameloblastoma]. / Métastases pulmonaires d'un améloblastome.

We report the observation of a 78 year old patient who had a plexiform ameloblastoma since the age of 38. A systematic pulmonary radiographic examination revealed multiple dense nodules like "cannon ball secondaries". However the histology of these pulmonary nodules, obtained by open lung biopsy, was identical with the primary tumour and showed no evidence of malignancy. The dispersion to the lungs was probably explained by inhalation of tumour cells, itself favoured by 8 surgical curettages. The progress of these pulmonary lesions was as slow as the primary tumour. No therapeutic trial was attempted on the grounds of age, perfect clinical tolerance and the absence of any known therapeutic protocol which would be active.

[Healthy subjects with malignant cells in their sputum. Apropos of 60 cases]. / Les cracheurs sains de cellules malignes. A propos de 60 cas.

Sixty cases of occult carcinoma of the lung are described. A distinction is made between "revealed cases" (23 cases) in which the carcinoma revealed itself within 5 months after the first cytological findings, and true occult carcinomas (37 cases) in which lesions developed within 5 months to 8 years after the first positive cytology. Mean survival in the "revealed cases" was 13 months. It was 51 months for true occult lung carcinomas and 68.5 months for occult carcinomas treated by chemotherapy starting at the time of discovery of malignant cells in the sputum. The method of choice is selective bronchial aspirates and brushings after repeated sputum cytology which allows for localization of the lesion and early surgery.

[Post-therapeutic development of small cell epitheliomas to malpighian epitheliomas, or initially composite forms? Apropos of 3 cases, review of the literature]. / Evolution post-thérapeutique d'épithéliomas à petites cellules en épithéliomas malpighiens, ou formes composites d'emblée? A propos de 3 cas, revue de la littérature.

Three cases of transformation of small cell carcinomas into squamous cell cancer after chemotherapy are reported. A review of the literature shows that about 7% of small cell carcinomas are associated to different histological types of cancer before treatment. Such an association is found in about 25% of the cases after chemotherapy. Recent biochemical and ultrastructural approaches have led to new concepts concerning the histogenesis of lung cancer. The unicyst theory suggested by some authors could explain the therapy-induced maturation of undifferentiated small cell carcinoma.