gms | German Medical Science

Basal cell naevus syndrome is a rare condition which is inherited as an autosomal dominant trait with complete penetrance and variable expressivity. Syndrome is found in all races. Gene responsible has been localized in chromosome 9q22.1-q31, in the PTCH gene,suppressor gene.Men and women are affected equally. The patient described in the following illustrative case is a 41 year old female with basal cell nevus syndrome. The patient was adopted and her family history is unknown. Physical examination: multiple, exulcerate, basal cell carcinoma were evident, multiple palmar and plantar pits, marked bifrontal bossing broadened nasal root, mild hipertelorism, strabismus, exaggerated length of the mandibule, Sprengal deformity, pectus carinatum. Histopathological examination of excised skin tissue: basal cell carcinoma. Surgery is not a option for treatment of Gorlin- Goltz syndrome. Attempts of transplantation of skin in paces of defects failed. Skin was rejected. It is not a therapeutic procedure for treatment of skin defects that develop in disease. They should receive treatment with irradiation, application of isotretionin or acitretin.

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