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THE OPHTHALMOLOGICAL SIGNIFICANCE OF THE BASAL CELL NAEVUS SYNDROME
Author(s) -
FRACO PETER A. ROGERS
Publication year - 1983
Publication title -
australian journal of opthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.3
H-Index - 74
eISSN - 1442-9071
pISSN - 0310-1177
DOI - 10.1111/j.1442-9071.1983.tb01093.x
Subject(s) - frontal bossing , expressivity , penetrance , abnormality , family history , basal cell nevus syndrome , basal (medicine) , skull , medicine , dermatology , biology , anatomy , pathology , basal cell , surgery , genetics , basal cell carcinoma , phenotype , psychiatry , gene , insulin
Ten cases of the basal cell naevus syndrome (BCNS) are reported. The study is based on clinical findings with no investigations beyond two skull radiographs. The diagnosis is made on some or all of the following findings: family history, jaw cysts, progressive development of basal cell carcinomas (BCCs), pitting of the palms and soles, frontal bossing, abnormality of the skeletal system and ectopic calcification. Eight of the cases are in one family covering three generations. With the exception of a one‐year‐old child in the third generation (not included) all of this group have the syndrome. The dominant trait is demonstrated, as is the high degree of expressivity and penetrance. Genetic counselling is essential where applicable. Sympathetic regular clinical examination over a lifetime is recommended to avoid disastrous complications.