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[Association of multiple basal cell carcinomas of the face and spinocerebellar degeneration. Study of 4 familial cases including an anatomo-clinical description].
Sem Hop 1975; 51(49):3009-17SH

Abstract

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.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article

Language

fre

PubMed ID

174221

Citation

Pasquier, B, et al. "[Association of Multiple Basal Cell Carcinomas of the Face and Spinocerebellar Degeneration. Study of 4 Familial Cases Including an Anatomo-clinical Description]." La Semaine Des Hopitaux : Organe Fonde Par l'Association D'enseignement Medical Des Hopitaux De Paris, vol. 51, no. 49, 1975, pp. 3009-17.
Pasquier B, Couderc P, Tommasi M, et al. [Association of multiple basal cell carcinomas of the face and spinocerebellar degeneration. Study of 4 familial cases including an anatomo-clinical description]. Sem Hop. 1975;51(49):3009-17.
Pasquier, B., Couderc, P., Tommasi, M., Groslambert, R., & Pasquier, D. (1975). [Association of multiple basal cell carcinomas of the face and spinocerebellar degeneration. Study of 4 familial cases including an anatomo-clinical description]. La Semaine Des Hopitaux : Organe Fonde Par l'Association D'enseignement Medical Des Hopitaux De Paris, 51(49), pp. 3009-17.
Pasquier B, et al. [Association of Multiple Basal Cell Carcinomas of the Face and Spinocerebellar Degeneration. Study of 4 Familial Cases Including an Anatomo-clinical Description]. Sem Hop. 1975 Dec 23;51(49):3009-17. PubMed PMID: 174221.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Association of multiple basal cell carcinomas of the face and spinocerebellar degeneration. Study of 4 familial cases including an anatomo-clinical description]. AU - Pasquier,B, AU - Couderc,P, AU - Tommasi,M, AU - Groslambert,R, AU - Pasquier,D, PY - 1975/12/23/pubmed PY - 1975/12/23/medline PY - 1975/12/23/entrez SP - 3009 EP - 17 JF - La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris JO - Sem Hop VL - 51 IS - 49 N2 - 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. UR - https://www.unboundmedicine.com/medline/citation/174221/[Association_of_multiple_basal_cell_carcinomas_of_the_face_and_spinocerebellar_degeneration__Study_of_4_familial_cases_including_an_anatomo_clinical_description]_ L2 - https://medlineplus.gov/spinalcorddiseases.html DB - PRIME DP - Unbound Medicine ER -