Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0848332 (Spots)
 453 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The incidence of the neurocutaneous syndrome in children with organic brain lesions of varying origin was studied. It was shown that in reviewing the structure of this syndrome (along with the other extensively described pathological forms, such as Recklinghausen's disease, tuberous sclerosis, Sturge-Weber disease, etc.), the neurocutaneous syndrome characterized by depigmented spots on the skin should be considered separately. The paper describes at full length the individual dermatoglyphic parameters and features of the neurological state of the patients suffering from the neurocutaneous syndrome with depigmented skin spots.
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PMID:[Clinical polymorphism of the neurocutaneous syndrome in children]. 685 93

Tuberous sclerosis complex (TSC) is an autosomal dominant condition whose signs and symptoms may vary from a few hypopigmented skin spots to epilepsy, severe mental retardation, and renal failure. The disease is caused by mutations in either TSC1 or TSC2 gene, at chromosome 9q34 and 16p13.3. Inactivation of both alleles at TSC1 or TSC2 loci is associated with the development of hamartomas in different organs, and only rarely with malignant neoplasms. In this study we present a 6-year-old boy with TSC and with a malignant islet cell tumor of the pancreas. Mutation analysis of DNA extracted from peripheral blood cells of the patient identified an R1459X de novo mutation in exon 33 of the TSC2 gene. Immunohistochemical analysis with anti-tuberin antibodies on paraffin-embedded tissue sections showed loss of tuberin immunostaining in tumor cells but normal expression in residual normal pancreas. DNA analysis of tumor and normal cells showed chromosome 16p13 loss of heterozygosity in malignant pancreatic islet cell tumor but not in normal pancreas. These findings suggest a role for tuberin, the TSC2 gene product, in the pathogenesis of malignant pancreatic endocrine tumor.
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PMID:Malignant pancreatic endocrine tumor in a child with tuberous sclerosis. 1450 1

We evaluated a 11-year-old male patient with mental delay, autism and brownish and whitish skin spots. The former resembled those of neurofibromatosis, the latter those of tuberous sclerosis. The patient received a complete clinical work-up to exclude neurofibromatosis, tuberous sclerosis, or any other known neurocutaneous disease, with biochemistry, chromosome analysis and analysis of skin specimens. Being all the other tests not significant, two main ultrastructural defects were observed. The first was a blockage in intracellular vescicular trafficking with sparing of the mitochondria; the second an aberrant presence of melanosomes in vacuoles of several cell lines and abnormal transfer of these organelles to keratinocytes. This patient presented with a unique clinical picture distinct from neurofibromatosis or tuberous sclerosis or any other known neurocutaneous disease. The ultrastructural abnormalities suggested a defect in cell trafficking involving several cell lines and compartments.
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PMID:Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects. 1687 94