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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 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.