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Results for “Basal Cell Nevus Syndrome”

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At least 19 recordsLinked to original sources
PubMed1988

Multiple abnormalities in the ultraviolet light response of cultured fibroblasts derived from patients with the basal cell nevus syndrome.

Basal Cell Nevus Syndrome (BCNS) is a rare autosomal-dominant inherited disorder associated with a marked hypersusceptibility to spontaneous and radiation-induced skin cancer. We examined the changes in cell survival, unscheduled DNA synthesis (UDS) and the frequency of sister chromatid exchanges (SCE) induced by ultraviolet light (UVL) in confluent normal and BCNS fibroblasts. BCNS cells appeared slightly hypersensitive to the cytotoxic effects of UVL. The rate of UDS induced by UVL exposure in normal cell strains increased linearly following doses up to 30 J/m2, whereas in BCNS cells UDS became saturated at doses of 10 J/m2 showing no further increase with doses up to 30 J/m2. UDS activity persisted for longer periods after UVL exposure in BCNS as compared with normal cells. The dose-response relationship for UVL-induced SCE was similar in normal and BCNS fibroblasts. However, the frequencies of UVL-induced SCE declined to near background levels in normal cells following 12-24 hr of confluent holding prior to subculture whereas they remained elevated in BCNS cells with holding times up to 24 hr after UVL exposure. Overall, these results suggest that BCNS fibroblasts may have a diminished capacity for the repair of some type of DNA damage as compared with normal fibroblasts.

Adult↗
PubMed2005

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome.

Basal cell nevus syndrome (Gorlin syndrome) is an autosomal dominant disorder characterized by the presence of multiple basal cell carcinomas (BCC), odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri caused by mutational inactivation of the PTCH gene. In few cases, the syndrome is due to a microdeletion at 9q22. Using high-resolution chromosome analysis we have identified a patient with the karyotype, 46,XY,del(9)(q21.3q31) de novo. He had typical clinical features consistent with basal cell nevus syndrome, but also additional features likely to be caused by loss of additional chromosomal material in this region. The deletion breakpoints were characterized with fluorescence in situ hybridization (FISH) analysis using BAC clones. The 15 Mb long deletion includes 87 RefSeq genes including PTCH. Hemizygosity of one or more genes might contribute to the additional symptoms observed in this patient.

Adult↗
PubMed1997

The occurrence of endometrial adenocarcinoma in a patient with basal cell nevus syndrome.

Basal cell nevus syndrome is rare multisystem disorder. Its genital implications in female patients is thought to be limited to ovarian fibroma. This article describes endometrial adenocarcinoma in association with basal cell nevus syndrome in a 37-year-old female with multiple basal cell carcinomas, mandibular and maxillary bone cysts, right ovarian fibroma, and scoliosis. Histopathologic examination of her endometrial biopsy, performed for irregular uterine bleeding, revealed endometrial hyperplasia. Her bleeding failed to respond to progestin therapy, and a repeat endometrial biopsy revealed a well differentiated endometrial adenocarcinoma. Health-care providers are encouraged to refer these patients to gynecologists. Regular gynecologic examination as well as appropriate evaluation of abnormal menstrual bleeding should be emphasized.

Adenocarcinoma↗
PubMed2002

Novel mutations in the PATCHED gene in basal cell nevus syndrome.

Basal cell nevus syndrome (BCNS) is an autosomal dominant disease characterized by the presence of multiple basal cell carcinomas, odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri caused by mutational inactivation of the PTCH gene. To investigate the molecular basis of BCNS in Chinese, we did a mutational analysis of the PTCH gene by performing denaturing high-performance liquid chromatography in three BCNS families. In this study, three novel mutations, two 1-bp frameshift insertions, i.e., 1468insA and 2392insC, and one 8-bp deletion, i.e., IVS5 + 1delGTAAGTGT, affecting a donor splice site, were identified. All the mutations cause a shift of the open reading frames and lead to premature termination of PTCH protein translation. Our results showed that mutational inactivation of the PTCH gene causes BCNS in Chinese.

Adult↗
PubMed1990

[Kinship studies in Gorlin-Goltz syndrome (basal cell nevus syndrome)].

By means of an investigation on 7 patients from 3 families views are expressed on the problems of the basal cell-naevus-syndrome. The typical clinical signs appear preferentially and as first-symptoms in the jaw-bone as solitary and later developing multiple cysts. Because these first symptoms of the syndrome cause secondary, dentitio tarda (belated dentition) and displacement of the teeth, the dentist or the maxillo-facial-surgeon has a special responsibility for early diagnosis of this disease. Reference is made to the necessity of interdisciplinary cooperation and the ambulatory-care of the patients in the sense of a family registration and observation.

Adult↗
PubMed2001

A novel polymorphism in the PTC gene allows easy identification of allelic loss in basal cell nevus syndrome lesions.

Basal cell nevus syndrome (BCNS; also nevoid basal cell carcinoma syndrome [NBCCS]; Gorlin's syndrome) is an autosomal dominant syndrome characterized by multiple basal cell carcinomas, keratocysts, and developmental skeletal defects. Mutation of the human homologue of Drosophila patched (PTC) gene is considered to be the molecular defect in BCNS. PTC mutations have been observed in sporadic tumors including basal cell and ovarian carcinomas and medulloblastoma. The authors report a novel C/T polymorphism in the PTC gene. Forty-eight normal blood samples were screened for the presence of the polymorphism using direct radioactive and automated sequencing of polymerase chain reaction (PCR) products and restriction enzyme digestion. Results demonstrated 20 homozygous T (43%), 11 homozygous C (23%), and 17 heterozygous C/T (35%). The presence of this polymorphism has permitted us to directly detect allelic loss in BCNS, sporadic keratocysts, and basal cell carcinoma (BCC). Further, four BCNS keratocysts and two BCNS-BCC and three non-BCNS keratocysts showed allelic loss of complementary DNA from lesions when compared with their corresponding blood genomic DNA.

Basal Cell Nevus Syndrome↗
PubMed2002

Ultrapulse CO2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome.

BACKGROUND: Basal cell nevus syndrome (BCNS) is an inherited condition marked by multiple basal cell carcinomas (BCCs) associated with several other abnormalities. Various treatment modalities have been used to eradicate these tumors. However, recurrences and scarring limit their use. OBJECTIVE: To evaluate the treatment of multiple BCCs associated with BCNS. METHODS: We describe three cases of BCNS in which multiple BCCs were effectively treated with ultrapulse CO2 laser. Postoperative Mohs micrographic surgical sections (thin sections looking for residual tumor) verified complete histologic clearance of the tumors. RESULTS: All three patients were effectively treated with ultrapulse CO2 laser. Minimal scarring was noted at follow-up. CONCLUSION: Ultrapulse CO2 laser can be used to effectively treat small BCCs in low-risk areas associated with BCNS with minimal posttreatment scarring.

Adolescent↗
PubMed1978

Familial basal cell nevus syndrome.

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.

Adult↗
PubMed1996

Human homolog of patched, a candidate gene for the basal cell nevus syndrome.

The basal cell nevus syndrome (BCNS) is characterized by developmental abnormalities and by the postnatal occurrence of cancers, especially basal cell carcinomas (BCCs), the most common human cancer. Heritable mutations in BCNS patients and a somatic mutation in a sporadic BCC were identified in a human homolog of the Drosophila patched (ptc) gene. The ptc gene encodes a transmembrane protein that in Drosophila acts in opposition to the Hedgehog signaling protein, controlling cell fates, patterning, and growth in numerous tissues. The human PTC gene appears to be crucial for proper embryonic development and for tumor suppression.

Adult↗
PubMed1994

Parental origin of chromosome 9q22.3-q31 lost in basal cell carcinomas from basal cell nevus syndrome patients.

The basal cell nevus syndrome is an autosomal dominant disease, one of the most prominent phenotypic features of which is a large number of cutaneous basal cell carcinomas. The gene whose mutation underlies this disease has been mapped to chromosome 9q22.3-q31, and basal cell carcinomas frequently have allelic losses including this site. We report here that the chromosome 9q22.3-q31 lost in 24 basal cell carcinomas from basal cell nevus syndrome patients was the one predicted by linkage to contain the wild-type gene. Hence these data are compatible with the exception that the product of the basal cell nevus syndrome gene acts as a tumor suppressor.

Alleles↗
PubMed1988

[Basal cell nevus syndrome with squamous cell carcinoma of the larynx].

We report on a 54-year-old patient suffering from basal cell nevus syndrome. At the age of 51, squamous cell carcinoma of the larynx had been diagnosed. The frequent occurrence of various kinds of benign and malignant neoplasms in patients with basal cell nevus syndrome illustrates the close relationship between this syndrome and phacomatoses.

Basal Cell Nevus Syndrome↗
PubMed1986

[Basal cell nevus syndrome].

Six cases of familial basal cell nevus syndrome encountered over the past 20 years are described. The syndrome is fairly rare and its importance derives from the fact that it is associated with skin lesions of the basal cell epithelioma type that are often highly invasive as well as dysontogenic lesions affecting many organs and systems (mandibular cysts, skeletal anomalies, cerebral calcifications, etc.). On the basis of personal experience and in view of the essentially constant evolution of individual lesions into invasive forms (that were certainly the direct cause of death in two of the six patients), early treatment is considered to be of prophylactic significance. The best treatment is thought to be diathermocoagulation rather than traditional surgery radiation treatment.

Adult↗