Nasal polyposis, a rare disease in childhood, can present itself as an idiopathic disease. The aim of this study was to describe some of the clinical features of idiopathic nasal polyposis in children and to emphasize this condition as a specific clinical entity.

Almost 10% of breast and ovarian cancer are inherited, and the majority are linked to BRCA1 and BRCA2 germline mutations. Despite the uncertainty in the management of women gene carriers, consensus guidelines were defined to assist practitioners', and patients' decisions about the health care decisions to be made.

The nonrandomness of chromosomal abnormalities of hematopoietic malignancies, which has been established twenty years ago, has evidenced a more or less close relationship between some structural chromosomal abnormalities and leukemia subtypes. The same relation was, then, shown between gene and chromosome rearrangements. It becomes now obvious that genes involved in malignant proliferations may rearrange several different partner genes, as for instance the genes MLL, localised to chromosome band 11q23, and ETV6/TEL to 12p13. The study of these rearrangements is of particular importance in order to improve our knowledge of the functions of rearranged genes as well as their normal counterparts, and to analyse mechanisms favoring the occurrence of chromosomal rearrangements in malignancies.

Almost 10% of breast and ovarian cancer are inherited, and the majority are linked to BRCA1 and BRCA2 germline mutations. Despite the uncertainty, consensus guidelines were defined to assist practitioners', and patients' decisions about the health care decisions to be made.

Almost 10% of breast and ovarian cancer are inherited, and the majority are linked to BRCA1 and BRCA2 germline mutations. Despite the uncertainty, consensus guidelines were defined to assist practitioners', and patients' decisions about the health care decisions to be made.

The association between risk of breast cancer and familial risk is well documented. The first observation was described by Paul Broca around 1850 from his own family. Germinal mutations have been estimated to account for 5 to 10% of breast cancer cases. However, some questions remains unclear in this context of a multifactorial disease. Even if the rise in breast cancer risk associated with BRCAx mutations is well established, the place of a genetic factor among other factors risks of breast cancer remains unclear. The interaction between genetic, environmental and hormonal factors is an important problem. More particularly the effect of oral contraceptives and hormonal replacement therapy in women with or without hereditary susceptibility of breast cancer needs to be addressed.

Evidence is mounting that hereditary breast cancers and sporadic cases harbor distinct clinical and morphological patterns that are thought to be linked to different natural histories. BRCA1-associated breast cancers appear as high grade, poorly differentiated, highly proliferating, and frequently estrogen receptor negative tumors. Surprisingly, despite these features usually associated with a poor outlook, no decrease in the overall survival is observed in hereditary cases. These elements may be of valuable help in the design of strategies in the medical management of cancer prone individuals.

Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder, predisposing to the development of central nervous system (CNS) and retinal hemangioblastomas, endolymphatic sac tumors, renal cell carcinoma and/or renal cysts, pheochromocytomas, pancreatic cysts and/or tumors. Incidence of the disease is 1/36,000. CNS hemangioblastomas and renal cell carcinoma are the main causes of death. The VHL gene, located on 3p25-26, is a tumor-suppressor gene which plays a major role in regulation of VEGF expression. Germline mutations of the VHL gene are identified in about 70-99% of the patients. Mutations associated with VHL type 2 (with pheochromocytoma) are mainly missense mutations with hot-spot at codon 167. Somatic mutations of the VHL gene are found in both sporadic central nervous system hemangioblastomas and sporadic renal cell carcinoma. For endocrinologists search for VHL disease (as for MEN) should be imperative in presence of a patient with pheochromocytoma and neuroendocrine pancreatic tumor.

Multiple Endocrine Neoplasia type 1 (MEN1, OMIM 131100, Wermer syndrome) is characterized by inherited predisposition to primary hyperparathyroidism, endocrine pancreatic-duodenal, pituitary, adrenal glands tumors and benign and/or malignant proliferations of diffuse neuroendocrine tumors in thymus and bronchi, formerly defined as carcinoid tumors. Minor lesions have been observed in MEN1 patients such as cutaneous tumors (angiofibroma, lipoma, lentiginosis), thyroid epithelioma and tumors of the central nervous system, mainly spinal ependymoma. The MEN1 gene, a locus encompassing a 9 kb of genomic sequence contains 10 exons, the first exon being untranslated. The protein encoded by this gene was called menin and has been shown to contain two nuclear localization signals (NLS), suggesting a major function in the nucleus. Germline MEN1 mutations have been described in more than 150 families and are spread throughout the entire coding sequence. More than 70% of the mutations alter one or both NLS and no genotype-phenotype correlations were found to date. The MEN1 gene seems to be involved in a 20-30% of sporadic parathyroid and pancreatic/bronchic neuroendocrine tumors, but less than 1% of pituitary sporadic tumors. Further knowledge on the intracellular function of menin will be needed to understand the pathogenic effect of truncating and missense mutations of this gene in the initiation of endocrine cells tumorigenesis.

We report a case of a large blue mongolian spot which led to early diagnosis of Hurler's syndrome. This association is uncommon and should be recognized by dermatologists for early diagnosis and management.