[Familial form of cutaneous epitheliomatosis with complex neurological characteristics similar to hereditary spinocerebellar degeneration. Apropos of 4 cases including one case with anatomo-clinical description].
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.
D000328:Adult; D001480:Basal Ganglia Diseases / Q000209:etiology; D001921:Brain / Q000473:pathology; D002280:Basal Cell Carcinoma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics*; D013116:Spinal Cord / Q000473:pathology; D013118:Spinal Cord Diseases / Q000150:complications / Q000235:genetics*; D013577:Syndrome
Forme familiale d'épithéliomatose cutanée avec tableau neurologique complexe proche de l'hérédodégénérescence spino-cérébelleuse. A propos de 4 observations dont une anatomo-clinique