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At least 19 recordsLinked to original sources
PubMed1986

[Dysplastic nevus syndrome].

Dysplastic nevus syndrome is an autosomally dominant disease, which may develop hereditary malignant melanoma. Dysplastic nevi are found anywhere on the body surface and show definite clinical characteristics. Histologic examination reveals atypical melanocytes at the dermo-epidermal junction and inflammatory infiltration in the dermis. The dysplastic cells show either lentiginous or epithelioid dysplasia. The evolution towards malignant melanoma always starts with the development of epithelioid melanocytes in the epidermis. Sunlight might further the mechanism of degeneration. Thus dysplastic nevus syndrome becomes important for the possible recognition and prevention of potential malignant melanoma.

Cell Transformation, Neoplastic↗
PubMed1987

Cytogenetics in hereditary malignant melanoma and dysplastic nevus syndrome: is dysplastic nevus syndrome a chromosome instability disorder?

Analysis of peripheral blood lymphocyte Giemsa-banded karyotypes was performed on 163 family members from 13 melanoma-prone families. Patients were classified regarding the presence of cutaneous melanoma and dysplastic nevi (a well characterized melanoma precursor), and each karyotype was scored for the number of cells containing the following: major structural, minor structural, and numerical abnormalities. No clonal cytogenetic abnormalities were observed. Cutaneous malignant melanoma and dysplastic nevi syndrome patients each had increased abnormalities of all types combined, compared with pooled controls (i.e., normal family members, and spouses; respectively, chi 2 = 6.02, p = 0.01; chi 2 = 5.29, p = 0.02). There was a statistically significant p-value for major structural abnormalities for melanoma patients and numerical abnormalities for the dysplastic nevi patients. Minor structural abnormalities did not differ in any of the groups. In addition, studies of ultraviolet induced sister chromatid exchange, in vitro tetraploidy, and extended prophase banding were performed on a limited number of patients. No significant differences between cases and controls were observed in these tests. Our data suggest that a chromosome instability abnormality may contribute to the pathogenesis of hereditary melanoma.

Adult↗
PubMed1989

Mutation rate estimates are not compatible with autosomal dominant inheritance of the dysplastic nevus "syndrome".

Dysplastic nevi represent precursor lesions harboring an increased risk of evolving into melanoma. Their association with familial melanoma is usually considered a monogenic syndrome with autosomal dominant transmission. To test this concept we estimated the mutation rates. When derived directly from the sporadic occurrence of the trait, the mutation rate is exceedingly high (0.9%-2.5%), whereas, as estimated with the aid of Haldane's formula it would be 0.007% to 0.02%. Accordingly, newly arising mutation would outnumber eliminated mutations by 100:1. Even if only 80% of all old mutations are passed onto the next generation, this ratio of 100:1 would rapidly change. After only a few generations, 10% of the world population should be affected with the dysplastic nevus "syndrome". The apparent lack of a genetic equilibrium between newly arising and eliminated mutations is not compatible with autosomal dominant inheritance of the dysplastic nevus "syndrome."

Chromosome Aberrations↗
PubMedDate not supplied

Conjunctival and uveal melanoma in the dysplastic nevus syndrome.

The dysplastic nevus syndrome was conceptualized in the late 1970s, and the subsequent proposal of a genetic relationship with ocular melanoma has stimulated debate in the literature which remains unresolved. We present the case of a 60-year-old man with histologically proven sporadic dysplasic nevus syndrome and a prior history of nine cutaneous melanomas, who developed a large, exophytic melanoma of the cornea and limbal conjunctiva. Cytogenetic analysis of this melanoma revealed a clonal 1;14 translocation. We believe this is the first reported case to use cytogenetic techniques in the analysis of conjunctival melanoma, either associated with dysplastic nevus syndrome or in isolation. We review the clinical literature as well as the cytogenetic and molecular genetic data related to the possible association of cutaneous melanoma, conjunctival and uveal melanoma and the dysplastic nevus syndrome.

Chromosomes, Human, Pair 1↗
PubMed1986

[Dysplastic nevus syndrome].

The dysplastic nevus (DN) was first described by Clark in 1976. It was subsequently recognized to be a precursor of melanoma. Dysplastic nevi present with typical clinical and histological criteria. The dysplastic nevus syndrome (DNS) can be considered when at least two other family members have been shown to have multiple dysplastic nevi. From our own experience of over 2000 non-selected patients with melanoma only 60 (3%) were shown to have the DNS. In these 60 we could prove direct genetic penetration even though no HLA phenotype preference could be seen. Evaluation of the biological activity of the DN in cell cultures, as well as T-lymphocyte analysis in the neighborhood of the DN have shown signs of incipient malignant transformation of the DN. The practical implications of these findings and observations are discussed.

Dysplastic Nevus Syndrome↗
PubMed1982

Abnormal sensitivity to UV-radiation in cultured skin fibroblasts from patients with hereditary cutaneous malignant melanoma and dysplastic nevus syndrome.

The dysplastic nevus syndrome (DNS) is a preneoplastic melanocyte abnormality which occurs in families affected by hereditary cutaneous malignant melanoma (HCMM). Although environmental exposures, especially solar UV-irradiation, have been implicated as risk factors in sporadic melanoma, the role of such exposures in the pathogenesis of HCMM is unknown. We have studied the in vitro radiation responses of six non-tumor skin fibroblast strains from HCMM/DNS patients representing five families. All six HCMM/DNS strains were found to show some degree of enhanced cell killing sensitivity, compared with normal controls, following 254 nm UV-irradiation. The abnormal survival responses appeared to relate to specific characteristics of HCMM/DNS cells since the six strains had essentially normal sensitivity to gamma-radiation. The enhanced photosensitivity was not associated with abnormal patterns in either DNA repair synthesis or UV-induced inhibition and recovery of de novo DNA synthesis. The survival results are consistent with the hypothesis that the genetically determined predisposition to malignant melanoma may directly or indirectly be the consequence of increased susceptibility to UV-induced cellular damage.

Adolescent↗
PubMed1989

Ultraviolet mutagenesis in a plasmid vector replicated in lymphoid cells from patient with the melanoma-prone disorder dysplastic nevus syndrome.

The hereditary dysplastic nevus syndrome (DNS) is an autosomal dominant disorder in which affected individuals have increased numbers of dysplastic (premalignant) nevi and a greater than 100-fold increased risk of developing cutaneous melanoma. Epstein-Barr virus-transformed lymphoblastoid cell lines from patients with hereditary DNS have been shown to be hypermutable to UV radiation (M.I.R. Perera et al., Cancer Res., 46: 1005-1009, 1986). To examine the mechanism involved in this UV hypermutability, we used a shuttle vector plasmid, pZ189, which carries a 160-base pair marker gene, supF, and can replicate in human cells. pZ189 was treated with UV radiation and transfected into DNS6BE, a lymphoblastoid cell line from a patient with hereditary DNS. Plasmid survival after UV was similar with the DNS6BE line and with a lymphoblastoid cell line from a normal donor. Plasmid mutation frequency was greater with the DNS line in accord with the DNS cellular hypermutability. Base sequence analysis was performed on 69 mutated plasmids recovered from the DNS line. There were significantly more plasmids with single base substitution mutations (P less than 0.01) in comparison to UV-treated plasmids passed through normal fibroblasts. pZ189 hypermutability and an increased frequency of single base substitutions was previously found with a cell line from a melanoma-prone xeroderma pigmentosum patient. These differences may be related to the increased melanoma susceptibility in both DNS and xeroderma pigmentosum.

Adult↗
PubMed1991

Pregnancy and sex steroid hormone effects on nevi of patients with the dysplastic nevus syndrome.

Female patients with the dysplastic nevus syndrome who were pregnant or taking sex steroid hormones were prospectively studied to evaluate the effectiveness of photography and close clinical follow-up in detecting nevus change or melanoma development. Seventeen patients, who served as their own controls, were studied during 22 pregnancies. Twenty-four patients who used oral contraceptives and seven who took hormone supplements were similarly studied. This clinical management method provided timely biopsy of changing nevi with a small number of biopsies required per patient. One melanoma occurred during pregnancy, but neither patients who were taking sex steroid hormones nor those in the control groups had melanomas. The rate of nevus change observed clinically was 3.9 times higher when patients with dysplastic nevus syndrome were pregnant than when they were not, whereas no differences were observed whether or not women took oral contraceptives or hormone supplements. The rate of histologically proven dysplastic nevi that changed was 2.0-fold higher when women were pregnant; 1.4-fold higher with the use of hormone supplements and 1.1-fold higher with the use of oral contraceptives. These preliminary data suggest pregnancy and hormone supplements may be temporally associated with an increased rate of dysplastic nevus change.

Contraceptives, Oral↗
PubMed1990

Ocular melanoma in families with dysplastic nevus syndrome.

Five families with the dysplastic nevus syndrome, in each of which one member had ocular melanoma, are reported. These five families were examined within a 3-year period in one medical center. To date only five other families with such a combination have been reported. We suggest a causal relation between ocular melanoma and the familial dysplastic nevus syndrome.

Adolescent↗
PubMed1983

Dysplastic nevus syndrome (B-K mole syndrome).

Six cases of dysplastic nevus syndrome were diagnosed at this institution. Two cases of the familial form of the dysplastic nevus syndrome (B-K mole syndrome) are discussed in detail to demonstrate the clinical pattern and variance of the genetic expressivity. The reader is also alerted to the possibility of a melanoma occurring in a clinically nonaffected offspring, as a de novo melanoma. Recommendation for comparative photographic documentation and possibly improved means of treatment are discussed.

Dermabrasion↗
PubMed1986

Ocular findings in patients with dysplastic nevus syndrome.

Ninety-two patients with biopsy-proven dysplastic nevus syndrome were evaluated ophthalmologically and compared to a non-dysplastic nevus syndrome control population. A statistically significant increase in the percentage of dysplastic nevus syndrome patients versus controls harboring conjunctival nevi (9.78% vs. 1.85%), iris nevi (31.52% vs. 12.96%), and choroidal nevi (18.48% vs. 4.63%) was found. Although not statistically significant, the number of iris nevi encountered per patient was greater for the dysplastic nevus syndrome group. All dysplastic nevus syndrome patients and their families should be evaluated ophthalmologically, with special attention being given to dilated indirect ophthalmoscopy.

Adolescent↗
PubMed1980

Dysplastic nevus syndrome: a phenotypic association of sporadic cutaneous melanoma.

Clinical photographs of 79 prospectively studied cases of non-familial cutaneous malignant melanoma were reviewed; special attention was directed to the distribution pattern of coexistent melanocytic lesions. A group of 15 patients had moles on the covered buttock area. Seven of these patients had large clinically atypical nevi, and biopsies of these nevi showed severe melanocytic dysplasia. Residual elements of melanocytic dysplasia were identified in five of the primary melanomas in this group of patients. It is suggested that these patients represent a distinctive syndrome, the Dysplastic Nevus Syndrome (DNS) and that they are at increased risk for development of primary cutaneous malignant melanoma. The clinically and histologically distinctive dysplastic nevi of these patients are identical to the precursor lesion for melanoma that we have previously described in a familial context, the B-K mole syndrome. This paper represents the first description of this form of dysplasia in non-familial melanoma.

Adult↗
PubMed1988

Sporadic dysplastic nevus syndrome in a tyrosinase-positive oculocutaneous albino.

A case of dysplastic nevus syndrome in a 41-year-old tyrosinase-positive oculocutaneous albino man is presented. Clinically the patient exhibited multiple amelanotic lesions; histologic examination provided the diagnosis of dysplastic nevus syndrome. Fontana-Masson silver staining revealed the presence of melanin in the nevus cells. Hair bulbs incubated in tyrosine buffer produced melanin. This is the second reported case of dysplastic nevus syndrome in an oculocutaneous albino and the first case of dysplastic nevus syndrome in a tyrosinase-positive albino of which we are aware.

Adult↗
PubMed1988

Chromosome rearrangements in dysplastic nevus syndrome predisposing to malignant melanoma.

The dysplastic nevus syndrome (DNS) is an autosomal dominant trait characterized by multiple atypical skin moles and a propensity to malignant melanoma. We studied chromosomes from a three-generation DNS family in 1977. Cells cultured from normal skin and dysplastic nevi showed an elevation in chromosome rearrangements with nonrandom breakpoints and clonal proliferation marked by chromosome change. The DNS qualifies as a chromosome instability disorder, the first known to manifest dominant inheritance and a clear discernible premalignant state. The DNS road to malignancy may logically proceed by genomic alterations including translocations, duplications, and deletions.

Chromosome Aberrations↗
PubMed1985

Relationship of nevocytic nevi to sun exposure in dysplastic nevus syndrome.

In eighty consecutive patients who have the dysplastic nevus syndrome, the concentration of nevocytic nevi on the relatively sun-protected lateral thoracic area was compared to the concentration on the relatively sun-exposed areas of the anterior and posterior thorax. Nevocytic nevi in an area 7 X 20 cm were counted in each location. There was a total of 177 nevi on the lateral thorax (average, 2.2 nevi/person), 361 on the anterior thorax (average, 4.5 nevi/person), and 506 on the posterior thorax (average, 6.3 nevi/person). Men showed no significant difference in the number of nevi on the anterior and posterior thoracic areas, but women had fewer nevi on the anterior than on the posterior thoracic sites. These findings are consonant with the hypothesis that sunlight induces nevocytic nevi in patients who have the dysplastic nevus syndrome.

Adult↗
PubMed1992

[Dysplastic nevus syndrome of familial type. A family study].

A family with heritable occurrence of dysplastic nevus syndrome has been studied through 20 years and five generations. The intention was to study how the disease is inherited, how often malignant melanomas developed from such moles, and which factors caused this change. 59 out of 103 family members had dysplastic nevus syndrome. Occurrence was distributed equally between males and females. The moles were not present at birth, but first appeared in childhood and adolescence. The moles differ clinically from common moles by being flat, irregularly coloured, and irregularly delimited in relation to the surroundings. There are also large variations between moles in the individual. 20% of the patients developed hereditary malignant melanoma from these particular moles. Dysplastic nevus syndrome was inherited autosomally dominant and might develop into malignant melanoma many years later in life. In some cases the development was provoked by sunshine. Patients who suffer from dysplastic nevus syndrome are in danger of developing malignant melanoma and should therefore be careful of exposure to sun and should regularly examine their moles for possible changes.

Adolescent↗