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Generalized dermal perifollicular fibromas with polyps of the colon.

作者信息

Hornstein O P

出版信息

Hum Genet. 1976 Jul 27;33(2):193-7. doi: 10.1007/BF00281897.

DOI:10.1007/BF00281897
PMID:939573
Abstract

The cases of 2 siblings with a rare, generalized genodermatosis have been reported, the most conspicuous feature being multiple perifollicular fibromas. In this type of dermal hamartomas, an apparent autosomal dominant trait was noted as well as the association with a small number of colon polyps in one of the patients. The author assumes a distinct dermo-intestinal syndrome not reported hitherto, which can be differentiated from Gardner's syndrome.

摘要

相似文献

1
Generalized dermal perifollicular fibromas with polyps of the colon.
Hum Genet. 1976 Jul 27;33(2):193-7. doi: 10.1007/BF00281897.
2
Perifollicular fibromatosis cutis with polyps of the colon--a cutaneo-intestinal syndrome sui generis.毛囊周围皮肤纤维瘤病伴结肠息肉——一种独特的皮肤-肠道综合征。
Arch Dermatol Res (1975). 1975 Sep 12;253(2):161-75. doi: 10.1007/BF00582068.
3
Multiple dermal perifollicular fibromas with polyps of the colon -- report of a peculiar clinical syndrome.
Acta Hepatogastroenterol (Stuttg). 1976 Feb;23(1):53-8.
4
[Perifollicular fibroma of the skin and colonic polyps: Hornstein-Knickenberg syndrome].
Hautarzt. 1996 Apr;47(4):304-6. doi: 10.1007/s001050050420.
5
Gardner's syndrome, diagnosis and treatment. Report on a family.加德纳综合征的诊断与治疗。一家系报告。
Acta Chir Scand. 1979;145(4):267-72.
6
Gardner's syndrome and fibromatosis: review of the problem and report of a case.加德纳综合征与纤维瘤病:问题综述及一例报告
Dis Colon Rectum. 1975 Mar;18(2):128-33. doi: 10.1007/BF02587159.
7
Gardner's syndrome and nasal obstruction.加德纳综合征与鼻阻塞
R I Med J (1974). 1975 Nov;58(11):471-3.
8
[Observations on Gardner's syndrome].
Dtsch Z Verdau Stoffwechselkr. 1977;37(5-6):255-61.
9
Gardner's syndrome, colon cancer, and sarcoma.
J Surg Oncol. 1972;4(4):354-62. doi: 10.1002/jso.2930040406.
10
[Familial polyposis of the large intestine and Gardner's syndrome].
Cesk Gastroenterol Vyz. 1977 Dec;31(8):539-48.

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本文引用的文献

1
GARDNER'S SYNDROME. A FAMILY GROUP STUDY AND REVIEW.加德纳综合征。一项家族群体研究与综述。
Arch Dermatol. 1964 Jul;90:20-30. doi: 10.1001/archderm.1964.01600010026007.
2
Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts.对一个表现出综合征显性遗传的家族群体进行的随访研究,该综合征包括肠息肉、骨瘤、纤维瘤和表皮囊肿。
Am J Hum Genet. 1962 Dec;14(4):376-90.
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Perifollicular fibromas.毛囊周纤维瘤
Birt-Hogg-Dubé 综合征的肺部表现。
Fam Cancer. 2013 Sep;12(3):387-96. doi: 10.1007/s10689-013-9660-9.
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BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.BHD突变、Birt-Hogg-Dubé综合征的临床与分子遗传学研究:50个新家族系列及已发表报告综述
J Med Genet. 2008 Jun;45(6):321-31. doi: 10.1136/jmg.2007.054304. Epub 2008 Jan 30.
5
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.一大群患有Birt-Hogg-Dubé综合征的家族的种系BHD突变谱及表型分析。
Am J Hum Genet. 2005 Jun;76(6):1023-33. doi: 10.1086/430842. Epub 2005 Apr 25.
Arch Dermatol. 1960 Dec;82:913-7. doi: 10.1001/archderm.1960.01580060067008.
4
Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis.多发性皮肤和皮下病变与遗传性息肉病和骨瘤病同时出现。
Am J Hum Genet. 1953 Jun;5(2):139-47.
5
[Perifollicular fibroma].[毛囊周纤维瘤]
Ann Dermatol Syphiligr (Paris). 1969;96(2):121-8.
6
[Multiple perifollicular fibromas of the face and neck].[面部和颈部多发性毛囊周围纤维瘤]
Bull Soc Fr Dermatol Syphiligr. 1971;78(2):100-3.
7
Multiple hamartoma syndrome (Cowden's disease).
Arch Dermatol. 1972 Nov;106(5):682-90.
8
Multiple dermal perifollicular fibromas with polyps of the colon -- report of a peculiar clinical syndrome.
Acta Hepatogastroenterol (Stuttg). 1976 Feb;23(1):53-8.
9
Perifollicular fibromatosis cutis with polyps of the colon--a cutaneo-intestinal syndrome sui generis.毛囊周围皮肤纤维瘤病伴结肠息肉——一种独特的皮肤-肠道综合征。
Arch Dermatol Res (1975). 1975 Sep 12;253(2):161-75. doi: 10.1007/BF00582068.