Nevoid basal cell carcinoma (Gorlin) syndrome.

Excerpt Dr. Nathaniel I. Berlin: This discussion of the basal cell nevus syndrome is presented by the National Cancer Institute. This syndrome was first described by Binkley in 1951, and since that...

Basal Cell Nevus Syndrome

A study of cancer incidence in a cohort of 597 women with Turner syndrome (TS) and a virtually complete follow-up is presented. The cohort was established from the Danish Cytogenetic Register. Information on cancer incidence was obtained from the Danish Cancer Registry and compared with the expected number calculated from the age-, period- and site-specific cancer rates for Danish women. A total of 21 neoplasms was observed, of which 13 occurred more than 1 year after diagnosis of TS, corresponding to a relative risk of cancer of 1.1. Wilms' tumour was the only identified childhood cancer. No case of gonadoblastoma or dysgerminoma was identified in the 29 women with a Y chromosome or in the women in whom no Y chromosome material was detected by standard cytogenetic methods, suggesting that the risk of ovarian germ cell tumours may be lower than previously estimated. Colon cancer was observed in five patients (relative risk 6.9, 95% confidence interval 2.2-16.2). Further studies are needed to assess whether colon cancer in TS is related to Turner-associated genes on the sex chromosome(s).

Occurrence of cancer in women with Turner syndrome.

Turner's syndrome (TS) is a common genetic disorder of girls and women, for which the defining clinical triad is short stature, impaired sexual development, and infertility. Although classically known as monosomy X, genetic heterogeneity is frequent in TS, with mosaicism conferring a survival advantage. Several genetic loci have been implicated in TS including the short stature homeobox gene. TS effects many organs, with cutaneous stigmata providing critical clues for early detection of TS. The presence of lymphedema and its cutaneous sequelae are predictive of other systemic disorders, such as cardiac disease. Although an increased number of benign nevi have been reported in TS, the decreased melanoma rate in this population suggests some protective factor is active. Keloids were thought to be prevalent in TS, but recent data suggest otherwise. Autoimmune diseases are common in TS, with a possible increased prevalence of alopecia areata and vitiligo. The following review discusses new insights into the genetics and pathogenesis of this complex disorder, summarizes the major systemic effects, and reviews skin manifestations of TS and their implications.

Turner's syndrome in dermatology.

[Waardenburg's syndrome].

In 1951, Binkley and Johnson^ reported hereditary multiple basal cell epitheliomas in mother and daughter; they also found other developmental defects in these patients. Subsequent studies of such patients confirmed that this combination of the anomalies constitutes a distinct syndrome.i' "• 12,13 A wide range of anomalies is found in the basal cell nevus syndrome (BCNS). Cutaneous anomalies include basal cell epitheliomas, milia, epithelial and sebaceous cysts, lipomas and dyskeratoses of the palms and soles. Some osseous anomalies are mandibular cysts, rib anomalies, brachymetacarpalism, spina bifida occulta, sclerosis and defective dentition. Soft-tissue anomalies are calcification of the falx cerebri, ovarian fibromas with calcification and lymphatic mesenteric cysts. Mental and neurologic abnormalities such as mental retardation, aberrations and partial agenesis of the corpus callosum are anomalies of the nervous system. Ocular anomalies are hypertelorism, dystopia canthi, cataracts, and congenital blindness. In addition, this condition sometimes is associated with visceral carcinoma23. s, 13 or with hereditary or congenital syndromes.

V. C. Andreev

Papers

Basal cell nevus syndrome and turner's syndrome in a patient