Familial Multiple Trichodiscomas

Starink, Th. M.; Kisch, L.S.; Meijer, Chris J.L.M.

doi:10.1001/archderm.1985.01660070078019

Cited by 37 publications

(7 citation statements)

References 6 publications

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“…The third component, acrochordons, is less specific and there are BHD patients who have fibrofolliculomas and trichodiscomas but not acrochordons. [43][44][45][46] The second most commonly associated tumour type is renal tumour, which varies in histological features. To date, oncocytomas and chromophobe RCC are the most frequently described, but papillary and CCRCC have also been reported.…”

Section: Birt-hogg-dubé Syndrome (Bhd)mentioning

confidence: 99%

Familial adult renal neoplasia

Takahashi

Kahnoski²,

Gross³

et al. 2002

Journal of Medical Genetics

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Section: Birt-hogg-dubé Syndrome (Bhd)mentioning

confidence: 99%

Familial adult renal neoplasia

Takahashi

Kahnoski²,

Gross³

et al. 2002

Journal of Medical Genetics

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“…Trichodiscomas are hamartomas of the dermal portion of the hair disc and share the histological features of ®brofolliculomas, but contain predominantly the ®brous component. The third skin lesions, the acrochodons, are less speci®c and reports have shown cases whereby patients with ®brofolliculomas and trichodiscomas did not have acrochodons (Foucar et al, 1981;Starink et al, 1985;Starink and Brownstein, 1987;Moreno et al, 1985). Moreover, it has been argued that the clinically acrochodon-like lesions in BHD patients indeed are histological variations of the trichodiscoma/®brofolliculoma spectrum and not a separate entity (De la Torre et al, 1999).…”

mentioning

confidence: 99%

Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2

et al. 2001

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Birt-Hogg-DubeÂ syndrome (BHD) is an autosomal dominant neoplasia syndrome characterized mainly by benign skin tumors, and to a lesser extent, renal tumors and spontaneous pneumothorax. To map the BHD locus, we performed a genome-wide linkage analysis using polymorphic microsatellite markers on a large Swedish BHD family. Evidence of linkage was identi®ed on chromosome 17p12-q11.2, with a maximum LOD score of 3.58 for marker D17S1852. Further haplotype analysis de®ned a *35 cM candidate interval between the two¯anking markers, D17S1791 and D17S798. This information will facilitate the identi®cation of the BHD gene, leading to the understanding of its underlying molecular etiology. Oncogene (2001) 20, 5239 ± 5242.

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“…FMDF is the recently proposed name for a rare genodermatosis previously called familial multiple trichodiscomas. In the first report, from 1985, Starink et al . described a family who had developed multiple pure forms of trichodiscomas during childhood, in the absence of associated internal abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Familial multiple discoid fibromas: unique histological features and therapeutic response to topical rapamycin

Wee¹,

Chong

Natkunarajah³

et al. 2013

Br J Dermatol

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Familial multiple discoid fibromas is a rare genodermatosis that bears some resemblance to Birt-Hogg-Dubé syndrome but is not associated with mutations in the folliculin (FLCN) gene or systemic manifestations. It is characterized by the development of papules over the face and pinnae early in life. Histological findings are of fibrovascular tumours adjacent to hair follicles without features characteristic of fibrofolliculomas, which have recently been termed discoid fibromas. We present siblings with multiple papules over the face and pinnae that developed in childhood. Histological specimens from both siblings demonstrated discoid fibromas, but with some lesions exhibiting an unusual keloidal-like pattern with thick hyalinized collagen fibres surrounded by plump spindle and histiocyte-like cells. FLCN gene mutations were not found. We report on clinical improvement with topical rapamycin solution (1 mg mL(-1)) applied daily to the face for 4 months. Therapeutic response to topical rapamycin may provide a clue to the underlying genetic basis of this condition.

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Familial Multiple Trichodiscomas

Cited by 37 publications

References 6 publications

Familial adult renal neoplasia

Familial adult renal neoplasia

Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2

Familial multiple discoid fibromas: unique histological features and therapeutic response to topical rapamycin

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