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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The biologic peculiarities of tumors of early life are elucidated. The oncogenic grace period is emphasized, wherein infantile tumors tend to behave in a relatively benign fashion up until 3-6 months of age. A review of the types of congenital malformations associated with the development of neoplasms is presented. These associations appear to be of fundamental importance in developmental pathobiology. They are illustrated by the tendency for neoplasms to develop in anomalous or dysplastic tissues, such as developmental vestiges, undescended testes, dysgenic gonads and certain hamartoses. There is an increased incidence of tumor occurrence in: (1) specific teratologic disorders: aniridia, hemihypertrophy, Beckwith's syndrome, basal cell nevus syndromes and others; (2) cytogenetic abnormalities: Down's syndrome, 13q- syndrome (D-deletion), trisomy 18; (3) chromosomal instability syndromes: Fanconi's anemia, ataxia-telangiectasia, Bloom's syndrome. Finally, many agents, known to be carcinogenic when administered postnatally to animals, are teratogenic in the fetus. A few agents--urethan, alkylnitrosoureas, estrogens--are both teratogenic and carcinogenic when administered to the fetus transplacentally. It is suggested that the timing of intrauterine insult is important in determining whether the effect on the offspring is teratogenic, oncogenic or both. Teratogenesis appears to be the more primitive response. Other theories explaining the concurrence of tumors and anomalies are offered.
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PMID:Neoplasia of early life and its relationships to teratogenesis. 18 28

This report describes 12 patients with the Wiedemann-Beckwith syndrome (WBS), including 6 familial cases from 2 families. The clinical manifestations do not allow for a differentiation between familial and sporadic cases. Consistent morphologic features include organomegaly, cytomegaly and nucleomegaly. The pathogenetic process may involve few or many organs and tissues and may represent a nuclear/mitotic dysfunction. Clinically, the manifestations are hyperplasia, hypoplasia, dysplasia, neoplasia and defects in differentiation. Secondary functional disturbances are at times prominent. The differential diagnosis of the WBS includes 1) the Wilm's tumor (WT)-aniridia syndrome: 2) the "tumor-hypertrophy syndrome" which includes WT, adenocortical tumors or hepatoblastoma; 3) the WT-pseudohermaphroditism syndrome; and 4) the "tumor-nevus syndrome" with or without malformations (particularly duplications) of the urinary tract. The latter two conditions are apparently not associated with hemihypertrophy. Familial occurrence suggests that some cases of the WBS may be due to delayed mutation. Carriers of the premutated allele appear to belong to two classes: those with a high risk of producing affected offspring and those who transmit the premutated allele but have no affected offspring.
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PMID:Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases. 97 81

A patient is reported who developed dysplastic naevi at an early age. He also suffered from a syndrome including Wilms' tumour, aniridia, mental retardation and diabetes mellitus in association with an interstitial deletion of the short arm of chromosome 11. It is suggested that genetic factors may be important in sporadic as well as familial cases of the dysplastic naevus syndrome.
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PMID:Dysplastic naevi in association with partial deletion of chromosome 11. 231 Dec 80

Glaucomatous optic neuropathy may be considered as an endpoint of multiple systemic factors. Genetic conditions commonly causing glaucoma in children and adolescents include Axenfeld-Reiger syndrome, aniridia, Marfan syndrome, Weill-Marchessani syndrome, Sturge-Weber syndrome, Rubinstein-Taybi syndrome, nevus of Ota, congenital rubella and neurofibromatosis type 1. In the recent years, with the advancements in genetic research our understanding of the fundamental causes of glaucoma associated with inherited disorders has improved. In addition to intraocular pressure reduction, it is important for the clinician to be familiar with the multiple systemic associations with glaucoma, to re-evaluate treatment frequently, and to target the underlying disease process, if present.
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PMID:Pediatric genetic diseases causing glaucoma. 2762 78

Encephalocraniocutaneous lipomatosis or Haberland syndrome is a rare, congenital neurocutaneous syndrome. It is characterized by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye and ipsilateral neurologic malformations. We describe the first case from Lebanon, an infant with classical encephalocraniocutaneous lipomatosis characterized by nevus psiloliparus, unilateral right facial and frontal-temporal subcutaneous lipomas, alopecia, ocular coloboma, aniridia and eyelid nodular tags, ventriculomegaly with intracranial and intraspinal lipomas, and tethered spinal cord. We report this case of rare association between encephalocraniocutaneous lipomatosis and tethered spinal cord syndrome and stress on the importance of spinal cord evaluation in encephalocraniocutaneous lipomatosis.
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PMID:Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature. 2850 85