{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:07:51Z","timestamp":1759795671614,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,3]]},"abstract":"<jats:p>The significance of hypopigmented skin findings as manifestations of the gene for tuberous sclerosis (TS) in near relatives of TS patients is a difficult problem. We therefore studied the number and kind of whitish skin alterations found in 100 medical students and 100 school children. Ninety three percent of the former and 79% of the latter had some whitish lesions, many of them scars. Twenty percent of the adults and 12% of the children had roundish or oval macules larger than 10 mm in diameter, not known to be scars. In clinical practice with TS patients, our attention has been drawn to whitish raised masses or streaks in their first degree relatives. These were also found in study subjects so the significance of such lesions remains unclear. The role of Wood's light turned out to be questionable, far from pathognomonic for TS; 25% of all the whitish findings and 53% of the hypopigmented macules larger than 10 mm in diameter showed distinct or brilliant fluorescence under Wood's light.<\/jats:p>","DOI":"10.1136\/jmg.33.3.184","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"184-186","source":"Crossref","is-referenced-by-count":12,"title":["Hypopigmented skin alterations resembling tuberous sclerosis in normal skin."],"prefix":"10.1136","volume":"33","author":[{"given":"R","family":"Norio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Oksanen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Rantanen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1111\/j.1469-8749.1970.tb07876.x","article-title":"The significance of a white macule on the skin of a child","volume":"12","author":"Bundey, S.","year":"1970","unstructured":"Bundey S. The significance of a white macule on the skin of a child. Dev Med Child Neurol 1970;12:805-6.","journal-title":"Dev Med Child Neurol"},{"key":"ref_2","article-title":"Tuberous sclerosis","author":"Gomez, M.R.","year":"1988","unstructured":"Gomez MR, ed. Tuberous sclerosis. 2nd ed. New York: Raven Press, 1988.","edition":"2nd ed"},{"key":"ref_3","first-page":"615","article-title":"Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria","author":"Gomez, M.R.","year":"1991","unstructured":"Gomez MR. Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria. Ann NY Acad Sci 1991;615: 1-7.","journal-title":"Ann NY Acad Sci"},{"key":"ref_4","first-page":"587","article-title":"White spots in tuberous sclerosis","volume":"77","author":"Hurwitz, S.; Braverman, I.M.","year":"1970","unstructured":"Hurwitz S, Braverman IM. White spots in tuberous sclerosis. _7 Pediatr 1970;77:587-94."},{"key":"ref_5","first-page":"411","article-title":"Incidence of depigmented nevi in 1000 healthy term newborns","volume":"6","author":"JL, Jr, Kennedy; GH, Kalish","year":"1972","unstructured":"Kennedy JL Jr, Kalish GH. Incidence of depigmented nevi in 1000 healthy term newborns. Pediatr Res 1972;6:411.","journal-title":"Pediatr Res"},{"key":"ref_6","first-page":"2404","article-title":"Signification des taches achromiques chez le nourrisson","volume":"4","author":"Debard, A.; Richardet, J.M.","year":"1975","unstructured":"Debard A, Richardet JM. Signification des taches achromiques chez le nourrisson. Nouvelle Presse Med 1975;4: 2404.","journal-title":"Nouvelle Presse Med"},{"key":"ref_7","first-page":"696","article-title":"Birthmarks with serious medical significance: nevocellular nevi, sebaceous nevi, and multiple cafe au lait spots.3Pediatr","volume":"95","author":"Alper, J.; Holmes, L.B.; MC, Jr, Mihm","year":"1979","unstructured":"Alper J, Holmes LB, Mihm MC Jr. Birthmarks with serious medical significance: nevocellular nevi, sebaceous nevi, and multiple cafe au lait spots.3Pediatr 1979;95:696-700."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1038\/ng0294-193","article-title":"Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients","volume":"6","author":"Green, A.J.; Smith, M.; Yates, J.R.W.","year":"1994","unstructured":"Green AJ, Smith M, Yates JRW. Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nature Genet 1994;6:193-6.","journal-title":"Nature Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.3.184","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:08:06Z","timestamp":1759723686000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.3.184"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,3]]},"references-count":8,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1996,3,1]]},"published-print":{"date-parts":[[1996,3]]}},"alternative-id":["10.1136\/jmg.33.3.184"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.3.184","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1996,3]]}}}