{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T19:11:20Z","timestamp":1761765080605,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,10]]},"abstract":"<jats:p>A large Dutch family had been known for many years to be affected with skin tumours labelled as adenoma sebaceum, which were inherited in an autosomal dominant fashion. Since this skin sign is considered pathognomonic for tuberous sclerosis complex, the condition in the family was labelled accordingly, in the absence of further clinical features of tuberous sclerosis complex-like mental retardation or epilepsy. The skin changes started at early puberty with small eruptions around the nose and progressed to larger tumours, with considerable variation in severity. Some affected members had required plastic surgical reconstruction following excision. Linkage analysis in this family was performed for the two chromosomal regions involved in tuberous sclerosis complex on chromosomes 9q34 and 16p13, but no positive linkage was found. On critical re-evaluation of the clinical and pathological data and renewed assessment, the working diagnosis was changed to autosomal dominant cylindromatosis. The recently published candidate region for cylindromatosis on chromosome 16q12-13 was subsequently proven to be positively linked with a lod score of 3.02 with marker D16S308. Review of pathological specimens confirmed the diagnosis of cylindromatosis. DNA analysis of tumour tissue showed loss of heterozygosity for the cylindromatosis CYLD1 locus. These results confirm the candidate locus for cylindromatosis on chromosome 16q12-13.<\/jats:p>","DOI":"10.1136\/jmg.35.10.841","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"841-845","source":"Crossref","is-referenced-by-count":14,"title":["Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family."],"prefix":"10.1136","volume":"35","author":[{"given":"S","family":"Verhoef","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C T","family":"Schrander-Stumpel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V D","family":"Vuzevski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Tempelaars","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L A","family":"Jansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G A","family":"Malfeyt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T L","family":"Ceelen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Lindhout","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D J","family":"Halley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A M","family":"van den Ouweland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1136\/jmg.31.4.321","article-title":"Dermal eccrine cylindromatosis","volume":"31","author":"van Balkom IDC; RCM, Hennekam","year":"1994","unstructured":"van Balkom IDC, Hennekam RCM. Dermal eccrine cylindromatosis. JMed Genet 1994;31:321-4.","journal-title":"JMed Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1038\/ng1295-441","article-title":"Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16ql2-ql3: evidence for its role as a tumour suppressor gene","volume":"11","author":"Biggs, P.J.; Wooster, R.; Ford, D.","year":"1995","unstructured":"Biggs PJ, Wooster R, Ford D, et al. Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16ql2-ql3: evidence for its role as a tumour suppressor gene. Nat Genet 1995;11:441-3.","journal-title":"Nat Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1126\/science.277.5327.805","article-title":"Identification of the tuberous sclerosis gene TSC 1 on chromosome 9q34","volume":"277","author":"van Slegtenhorst M; de Hoogt R; C, Hermans","year":"1997","unstructured":"van Slegtenhorst M, de Hoogt R, Hermans C, et al. 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The cylindromatosis gene (CYLDI) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas. Oncogene 1996;12:1375-7.","journal-title":"Oncogene"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/0190-9622(95)90234-1","article-title":"Familial cutaneous cylindromas: investigations in five generations of a family","volume":"33","author":"Gerretsen, A.L.; Beemer, F.A.; Deenstra, W.; Hennekam, F.A.M.; van Vloten, W.A.","year":"1995","unstructured":"Gerretsen AL, Beemer FA, Deenstra W, Hennekam FAM, van Vloten WA. Familial cutaneous cylindromas: investigations in five generations of a family. Am Acad Dermatol 1995;33: 199-206.","journal-title":"Am Acad Dermatol"},{"issue":"85","key":"ref_7","first-page":"209","article-title":"Tuberous sclerosis","volume":"1962","author":"Nickel, W.R.; Reed, W.B.","unstructured":"Nickel WR, Reed WB. Tuberous sclerosis. Arch Dermatol 1962;85:209-26.","journal-title":"Arch Dermatol"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1111\/j.1749-6632.1991.tb37764.x","article-title":"Abnormal gene expression of stroma cells in patients with tuberous sclerosis","volume":"615","author":"Ishibashi, Y.; Watanabe, R.; Nogita, T.; Takahashi, T.; Onodera, K.; Kimura, G.","year":"1991","unstructured":"Ishibashi Y, Watanabe R, Nogita T, Takahashi T, Onodera K, Kimura G. Abnormal gene expression of stroma cells in patients with tuberous sclerosis. 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