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.

Twenty-five cases of a special pattern of chronic myeloid leukemia characterized, at the first evaluation, by excessive amount of blasts in blood or bone marrow (myeloblasts greater than or equal to 20%), Ph1 chromosome, and short evolution (median survival = 14,5 months) are reported. Age, spleen volume, white blood cell count are in keeping with those found in usual chronic myeloid leukemia (C.M.L.). However, clinical course is more severe with fever, bone pains, and anemia. Myelogibrosis, high circulating basophil polymorphonuclear count, platelet and megacaryocyte abnormalities (in morphology and number) are frequently associated with blastic excess. Subacute myeloid leukemia Ph1 positive (L.M.S. Ph1+) is proposed as an appellation for these cases in order to distinguish them from chronic myelocytic leukemia (C.M.L.) and other subacute myelogytic leukemias. The association of Ph1 chromosome excess of blasts and bone marrow fibrosis distinguishes L.M.S. Ph+ from: 1 degree C.M.L. with myelogibrosis; 2 degrees unusual cases of Ph1 positive myelofibrosis with myeloid metaplasia (M.M.M.); 3 degrees h1 positive acute leukemia. Forms of L.M.S. Ph+ with heavy blastic involvement are probably transitional cases with Ph1 acute myeloblastic leukemia. Prognosis is poorer than in C.M.L. but better than in acute blastic crisis occurring after chronic phase, which can be very similar to L.M.S. Ph1+, when seen for the first time.

A transformed and malignant cell line was obtained by treatment of secondary hamster embryo cells with 7-methyl benz(a)anthracene (10 mug/ml of medium). Later on these cells acquired the capacity to grow spontaneously in suspension and form "spheroids". The evolution of this cell line showed similarities between the carcinogenic process in vitro and in vivo.

The authors report an observation in which four siblings were affected by both multiple cutaneous epitheliomatosis and complex but relatively stereotyped neurological disorders. Clinically, the main syndrome was cerebello-spinal ataxia with involvement of the anterior horns of the spinal cord with less marked pyramidal and extra-pyramidal features. Neuropathological examination of one of the cases revealed lesions of essentially cerebello-spinal degeneration suggestive of Menzel's disease. The possible connection between the neural and cutaneous lesions is discussed. All the various etiological categories possible have been ruled out; not one being entirely satisfactory, except for the very broad category of genetic neuro-dermatoses.