Numerous skin lesions: sebaceous hyperplasias, benign acanthoma, keratoacanthomas and squamous cell epitheliomas appeared on the face, especially on the nose, on the cheeks and around the lips of a 45-year-old obese man with mild diabetes. In 1969, an adenocarcinoma had been found in the rectosigmoid and another one in the colon. In 1974, an excision of a well-differenciated epidermoid carcinoma was performed in the right external auditory meatus. A rectoscopy showed a micropolyp at the rectosigmoid junction. In 1975, an abdominal exploration was performed following a sudden relapse of about 50 skin lesions in the face, partly sebaceous adenomas, partly sebaceous gland epitheliomas, and about 10 precancerous lesions on the dorsum of the hands. A villous adenoma of the colon was removed. Inheritance appears to the autosomal dominant with variability in the expressiveness of the cutaneo-intestinal symptoms.

The authors report 4 cases of the morbid familial association revealing itself late in life (average age 37.7 years) including multiple basal cell carcinomas of the face and neurological and psychiatric symptoms, the most complete examples of which were severe, including mixed cerebello-spinal ataxia, involvement of the anterior horns of the spinal cord, a pyramidal syndrome and extra-pyramidal syndrome, abolition of the osteo-tendinous reflexes, dementia, paralysis of certain cranial nerves. These are associated constantly with increased glucose concentration in the cerebro-spinal fluid and dilatation of the cerebral ventricles. The course is unusual. The skin signs always occur first. There is a definite parallel between the severity of the skin involvement and that of the central nervous system. A neuropathological study of one case (case 2) showed lesions of degenerative type resembling spino-cerebellar degeneration of Menzel type with supramedullary diffusion to the locus niger, locus coeruleus, cranial nerves and thalamus. From these clinical and pathological findings, the authors noted an original pathological and clinical entity and consider certain diagnostic and pathological problems. The precise relationship between the skin and nervous lesions is unknown, but may be due to abiotrophic processes. Concerning the classification, this disease should not be included among the phacomatoses for there is no biastema tendency, and should be included among the more general group of neuro-cutaneous dystrophies or genoneurodermatoses.

The method of chromosome reverse banding was applied to cancer cells. 95 mitotic figures, obtained from 6 histologically different metastatic effusions, in man were studied. This method gives a precise identification of numerical and structural abnormalities in chromosomes. Every possible type of chromosome mutation was observed. The chromosome accidents are different according to their frequence and their stability. This seems to be linked with the genetic contents.

Tuberous sklerosis is an autosomal dominant disease with a pleiotropic pattern of its clinical picture. The skin symptoms because of their early appearance are of great importance for the diagnosis of this disease, though not for evaluation of its progression and prognosis. Among the cutaneous lesions "white leaf-shaped macules" are the most frequent and earliest symptoms. Of similar importance is the "adenoma sebaceum", whereas the other skin signs are less relevant.

Detailed ophthalmological and genetic studies on the four classical types of phacomatoses and more succint studies of twelve syndromes which can be considered as atypical forms of phacomatoses. Discussion of the association between the different forms of phacomatoses. Establishment of genetic prognoses.

Three children from a family of eight, had a cystic fibrosis diagnosed by Sweat test. Two of these had a nasal polyposis wigh widening of the nose, ethmoid and intercanthal distance. Every cases of this rare type of nasal polyposis in children observed since 1953 (Sweat test) and related in the litterature, had cystic fibrosis. It is concluded that cystic fibrosis may be the one only, cause of nasal polyposis with widening of the nose.

This study was devoted to the simultaneous examination of the karyotype and the bone marrow histology in 33 patients suffering from chronic myeloid leukemia with the Ph1 chromosome. Some patients were evaluated in the beginning of the disease, others after evolution and treatment and some at both times. Supplementary abnormalities of the karyotype occurred in some patients before any treatment, but in most after evolution and treatment. The abnormalities encountered consisted in hypodiploidies, modifications of chromosome structure and hyperdiploidies. The additional abnormalities of the karyotype were in the majority of the patients accompanied by a bone marrow histology characterized by more pronounced blastic infiltration and precollagen fibrosis and evidence of bone lesions. The picture realized by the karyotype and the bone marrow histology allows a better evaluation of the evolution and the prognosis is individual cases, especially of the likely hood of the acute blastic transformation.

Since 1933, four families have been found in Marseilles with bilateral tumours of the acoustic nerve spread over three generations in three families. The fourth only showing a cutaneous neuro-fibromatosis in the second generation. The authors recall briefly the clinical characteristics and compare their cases with similar ones found in the literature. Bilateral and familial neurinomas of the VIIIth cranial verbes were found in 21 families, making a total of 111 cases, unilateral neurinoma being used as a term of comparison. Among the groups of cases published, the family observed by Gardner and Frazier is the most remarkable (43 cases over 6 generations). From the hereditary point of view, the phenomenon of antiposition is not always constant. From the evolutionary point of view, bilateral neurinomas manifest themselves earlier clinically than unilateral ones. As far as associations are concerned, cutaneous manifestations of neuro-fibromatosis are the most frequent if the neurinomas are bilateral and non familia. Among tumors of the nervous system, meningiomas and gliomas have been found, other dysembryoplastic or degenerative tumoral associations being rare. The incidence of cutaneous symptoms is very low when the neurioma is unilateral. The association of cutaneous symptoms with bilateral and familial neurinomas does not worsen the prognosis, but the presence of such cutaneous signs is significantly more serious if the neurinoma is isolated. These considerations do no more than touch the fringes of the problems raised by these sporadic or hereditary tumours of the VIII the cranial nerves, developing within the framework of phacomatosis. Great caution is necessary in assessing the correlations observed in view of the narrow range of statistics available.