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Familial basal cell nevus syndrome

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Summary

The basal cell nevus syndrome is characterized by multiple basal cell nevi and basal cell carcinoma, cysts of the jaw, anomalies of ribs and spine, abnormal calcifications, and additional anomalies of the facial skull. A German family is described with manifestations of the syndrome in the mother and her three daughters. Expressivity was variable, in part due to age effects. The observation conforms to the assumed autosomal dominant mode of inheritance with high penetrance.

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References

  • Anderson, D. E., Cook, W. A.: Jaw cysts and the basal cell nevus syndrome. J. Oral. Surg. 24, 15–26 (1966)

    Google Scholar 

  • Anderson, D. E., Taylor, W. B., Falls, H. F., Davidson, R. T.: The nevoid basal cell carcinoma syndrome. Am. J. Hum. Genet. 19, 12–22 (1967)

    Google Scholar 

  • Binkley, G. W., Johnson, H. H.: Epithelioma adenoides cysticum: Basal cell nevi, agenesis of corpus callosum and dental cysts. Arch. Dermatol. Syphilol. 63, 73–84 (1951)

    Google Scholar 

  • Block, J. B., Clendenning, W. E.: Parathyroid hormone hyporesponsiveness in patients with basal cell nevi and bone defects. N. Engl. J. Med. 286, 1157–1162 (1963)

    Google Scholar 

  • Cawson, R. A., Kerr, G. A.: The syndrome of jaw cysts, basal cell tumour and skeletal anomalies. Proc. R. Soc. Med. 57, 799–801 (1964)

    Google Scholar 

  • Gorlin, R. J., Goltz, R. W.: Multiple nevoid basal cell epithelioma, jaw cysts and bifid rib: A syndrome. N. Engl. J. Med. 262, 908–912 (1960)

    Google Scholar 

  • Gorlin, R. J., Yunis, J. J., Tuna, N.: Multiple nevoid basal cell carcinoma, odontogenic keratocysts and skeletal anomalies: A syndrome. Acta Derm. Venereol. (Stockh.) 43, 39–55 (1963)

    Google Scholar 

  • Herzberg, J. J., Wiskemann, A.: Die fünfte Phakomatose: Basalzellnaevus mit familiärer Belastung und Medulloblastom. Dermatologica 126, 106–123 (1963)

    Google Scholar 

  • Howell, J. B., Caro, M. R.: Multiple primordial cysts associated with bifid rib and ocular defects. Oral Surg. 18, 498–503 (1964)

    Google Scholar 

  • Novak, D., Bloss, W.: Röntgenologische Aspekte des Basalzell-Naevus-Syndromes (Gorlin-Goltz-Syndrom). Rö. Fo. 124, 11–16 (1976)

    Google Scholar 

  • Pollard, J. J., New, P. F. J.: Hereditary cutaneomandibular polyoncosis: A syndrome of myriad basal cell nevi of the skin, mandibular cysts, and inconstant skeletal anomalies. Radiology 82, 840–849 (1964)

    Google Scholar 

  • Rater, C. J., Selke, A. C.: Basal cell nevus syndrome. Am. J. Roentgenol. 103, 589–594 (1968)

    Google Scholar 

  • Ward, W. H.: Nevoid basal cell carcinoma associated with a dyskeratosis of the palms and the soles: A new entity. Aust. J. Dermatol. 5, 204–207 (1960)

    Google Scholar 

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Lorenz, R., Fuhrmann, W. Familial basal cell nevus syndrome. Hum Genet 44, 153–163 (1978). https://doi.org/10.1007/BF00295408

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  • DOI: https://doi.org/10.1007/BF00295408

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