Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four cases of malignant melanoma in children younger than 17 years of age are presented. Several preexisting conditions increase the risk of development of melanoma during childhood. These include giant congenital melanocytic nevi, the familial dysplastic nevus syndrome, and xeroderma pigmentosum. The role of small congenital lesions and sporadic dysplastic nevi in the development of melanoma in children is less clear. The signs and symptoms associated with melanoma in children are similar to those in adults, as are the histopathologic features, biologic behavior, and treatment of this tumor. The inadequacy of available therapy for metastatic melanoma underscores the necessity for the early diagnosis and prompt surgical treatment of melanomas in children.
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PMID:Melanoma in children. 203 58

Basal cell carcinoma in children is rare. Its occurrence has been described in association with nevoid basal cell carcinoma syndrome, preexisting organoid nevus, and xeroderma pigmentosum. We present a case of solitary basal cell carcinoma in a 13-year-old boy with nonactive damaged skin or a genetically transmitted syndrome. The contribution of this case is to alert the physician to the possibility of basal cell carcinoma in children so that appropriate treatment may be initiated immediately and any delay avoided.
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PMID:Solitary basal cell carcinoma in a child. 253 1

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.
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PMID:Ultraviolet mutagenesis in a plasmid vector replicated in lymphoid cells from patient with the melanoma-prone disorder dysplastic nevus syndrome. 279 Aug 6

Patients with xeroderma pigmentosum (XP) have more than a 1000-fold increased risk of cutaneous melanoma. To determine if the XP DNA repair defect is present in cutaneous pigmentary cells, nevus cells and melanocytes from four large, pigmented nevi were cultured from a 12-year-old girl with XP. Cultured melanocytes showed dendritic morphologic features, contained mature melanosomes, and reacted with monoclonal antibody to tyrosinase. Nevus cells were spindle shaped and expressed nevus cell-associated antigens. Melanocytes, nevus cells, and dermal fibroblasts from the patient with XP all had a similar reduction in DNA repair: unscheduled DNA synthesis was 30% to 50% of that in normal fibroblasts following a 30 J/m2 ultraviolet dose. After a 6 J/m2 ultraviolet dose, the proliferative ability of XP nevus cells and fibroblasts was reduced to 10% of that of normal fibroblasts. This study indicates that cultured melanocytes and nevus cells express the characteristic XP DNA repair defect.
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PMID:Reduced DNA repair in cultured melanocytes and nevus cells from a patient with xeroderma pigmentosum. 291 63

In 1977 we undertook a prospective study aimed at evaluating the preventive effects of a retinoid (etretinate, Roche) on the occurrence of skin carcinomas in dermatoses carrying a high risk of malignancy. Ten patients were included in the study: 4 had Xeroderma pigmentosum (XP), 4 had basal cell naevus syndrome (BCN), and there was 1 case each of porokeratosis of Mibelli (PM) and familial epitheliomatosis of Ferguson-Smith (EFS). All recorded carcinomas had been cured before treatment was initiated. The number of epitheliomas which developed during treatment with etretinate was compared with the number of epitheliomas recorded during the months or years preceding this treatment or during trial periods without treatment. The results obtained were very encouraging: 1. In patients with XP the actinic keratosis rapidly regressed, and the dryness of the skin was markedly reduced during the 5 years under etretinate. During the period without etretinate skin dryness and multiple actinic keratosis soon reappeared, as did, in one case, numerous basal cell carcinomas (BCC). However, etretinate did not prevent the occurrence of a malignant melanoma and of a few lesions of lentigo and naevus. 2. In the first case of BCN concerning two sisters, one treated the other untreated, less BCC lesions and, mainly, less BCN lesions were recorded in the sister treated than in the untreated sister. In the second case of BCN 28 BCC lesions developed while the patient was under observation without any treatment during 6 months, whereas only 31 BCC lesions had been recorded during 6 years under etretinate.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Retinoids and the prevention of cutaneous epitheliomas: 1977-1987]. 344 84

Etiology of malignant melanoma in persons younger than 20 years of age was examined using data from two sources: medical records of 78 patients with this diagnosis at six hospitals, and information on 101 individuals included in 10 U.S. population-based SEER cancer registry areas between 1973-1976. Annual melanoma incidence rate was 3.4 per million in boys, 3.9 per million in girls, and 10-fold greater in white children than in black children. Melanoma was seven times more frequent in the second decade of life than the first. Skin was the primary site of melanoma in approximately 90% of the children in the two study series. The predominant cutaneous sites were head, neck, and trunk among boys, and arms and legs among girls. These variations by age, race, and sex suggest the etiologic role of cumulative skin exposure to sunlight, particularly in two patients with xeroderma pigmentosum. In 14 patients in the hospital series, melanoma was reported to develop within pigmented nevi that were present at birth.
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PMID:Childhood malignant melanoma. Incidence and etiology. 408 95

Beneficial effects of oral retinoids in prophylaxis of epithelial neoplasias have been demonstrated by experimental works. In this study oral retinoid (RO 10-9359) was used in human dermatosis with high frequency of cutaneous malignancies: xeroderma pigmentosum with or without malignant neoplasias, Mibelli's porokeratosis with multifocal malignant degeneration, basal cell naevus syndrome with basal cell carcinomas, familial epithelioma of Ferguson-Smith and actinic keratosis. This work started in december 1977. Visible epitheliomas have been treated before trial. Initial dose of retinoid was 1 mg/kg daily, decreased depending on individual tolerance. Results were appreciated by comparising number of epitheliomas observed in years preceding retinoid therapy and number of them appearing during treatment; in two familial cases (basal cell naevus syndrom in twins and xeroderma pigmentosum in two brothers) comparison was made between treated and untreated patients. First results are very promising: an excellent response on solar keratosis is noted; epitheliomas occurrence seems actually to be prevented or delayed by oral retinoid therapy. Of course more numerous cases, a longer time, periods without treatment are necessary to confirm these interesting first results. On the other hand drug is not with this dose active on already constituted carcinomas.
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PMID:[Evaluation of oral retinoid preventive action on human cutaneous epitheliomas (author's transl)]. 743 60

Between January 1956 and December 1990, 17 patients younger than 17 years with available pathological screens of de novo cutaneous melanoma, and with no other risk factors (xeroderma pigmentosum, giant congenital naevi, congenital melanoma or a proven family history of dysplastic naevus syndrome) were seen at the Gustave-Roussy Institute. The median age was 9 years and 9 months (range 2 years and 3 months-16 years and 9 months). The primary disease was located in the lower extremities in 10 cases, the trunk in five cases, and the upper extremities or head and neck in one case. The disease was localized for 10 patients at presentation (stage I), six had proven nodal metastasis (stage II) and one patient had nodal and breast metastases. The median thickness of the primary lesion was 2.89 mm (range 0.64-10). Five tumours were at level III on Clark's index, eight at level IV and four at level V. Six cases were classified as superficial spreading, two as unclassified radial growth, three nodular, three with Spitzoid cells, and three were unclassified. Two patients presented local recurrence with an initial unclassified melanoma, with a thickness greater than 2.5 mm. At a median follow-up time of 7 years, two patients had died from recurrent disease, and one patient had died from a second malignancy.
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PMID:Melanoma arising de novo in childhood: experience of the Gustave-Roussy Institute. 762 Mar 39

A 12-year-old boy was diagnosed as having group D xeroderma pigmentosum based on the results of unscheduled DNA synthesis (UDS) tests and complementation tests. More than 200 moles were distributed all over his body, including the unexposed areas of his torso and scalp. All of eight removed specimens were compatible histologically with nevocellular nevi.
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PMID:Group D xeroderma pigmentosum: a case with a number of nevocellular nevi. 767 58

It is rare for solitary basal cell cancer not to be associated with the naevoid basal cell carcinoma syndrome (NBCCS), xeroderma pigmentosum, an organoid nevus or X-ray therapy in children (to date 86 cases have been documented in the literature. Aetiologically, the tumours might be a forme fruste of the NBCCS or they might follow a somatic point mutation of keratinocytes. Up to now, data on the repair mechanism following UV-induced DNA damage are not available in these patients. We report on a 10-year-old boy with a solitary nodular basal cell cancer in the right malar region. Neither the patient's history nor the clinical findings suggested a genetic disposition to development of the tumour.
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PMID:[Solitary basalioma in a 10-year-old boy]. 807 Oct 74


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