Abstract:
:In autosomal dominant skin disorders, a pronounced mosaic involvement may sometimes be found to be superimposed on the ordinary nonsegmental lesions. Such "type 2 segmental manifestation" reflects loss of heterozygosity occurring at an early developmental stage, giving rise to a cell clone that lacks the corresponding wild-type allele. Here, this genetic concept is applied to an unusual case of plaque-type porokeratosis of Mibelli (PM) as published in 1893 by Vittorio Mibelli in the International Atlas of Rare Skin Diseases. The right forearm and hand of the 21-year-old patient showed a pronounced linear porokeratosis that had developed since the age of 2 years. Moreover, nonsegmental lesions of PM involved both hands and forearms as well as the face and the neck, having first been noticed at the age of 7 years. Two siblings and the father were likewise affected with PM. Hence, Mibelli's case from 1893 meets all of the criteria of a type 2 segmental manifestation of an autosomal dominant skin disorder. Recognizing such cases of superimposed segmental involvement may help elucidate the molecular basis of PM.
journal_name
J Am Acad Dermatoljournal_title
Journal of the American Academy of Dermatologyauthors
Happle Rdoi
10.1016/j.jaad.2008.12.049subject
Has Abstractpub_date
2010-01-01 00:00:00pages
136-138issue
1eissn
0190-9622issn
1097-6787pii
S0190-9622(09)00073-5journal_volume
62pub_type
传,历史文章,杂志文章abstract:UNLABELLED:Cutaneous vascular malformations are rare disorders representing errors in vascular development. These lesions occur much less commonly but are often confused with the common infantile hemangioma. It is important to properly diagnose vascular malformations because of their distinct differences in morbidity, ...
journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章,评审
doi:10.1016/j.jaad.2006.05.066
更新日期:2007-04-01 00:00:00
abstract::We report the case of a 29-year-old transsexual who developed Mycobacterium abscessus infection after receiving intramammary liquid silicone injections in the nonphysician office setting. Our patient represents 1 of 14 confirmed and 11 suspected cases in New York City of M abscessus infection after illicit cosmetic pr...
journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
doi:10.1016/j.jaad.2003.09.008
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章,评审
doi:10.1016/s0190-9622(81)70099-9
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abstract::Five of seven patients with acquired immunodeficiency syndrome (AIDS) who had pruritus and a chronic, nonspecific-appearing skin eruption had increased antibody titers to antigens in the salivary glands of Aedes taeniorhynchus, a salt marsh mosquito common to South Florida. We hypothesize that the pruritus and skin le...
journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
doi:10.1016/s0190-9622(89)80051-9
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
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更新日期:2014-09-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
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更新日期:2014-07-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
doi:10.1016/0190-9622(93)70259-v
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
doi:10.1016/0190-9622(92)70134-2
更新日期:1992-06-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
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更新日期:2004-05-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
doi:10.1016/j.jaad.2015.02.1095
更新日期:2015-06-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
doi:10.1016/s0190-9622(89)70336-4
更新日期:1989-12-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章,评审
doi:10.1016/0190-9622(90)70114-w
更新日期:1990-05-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
doi:10.1016/0190-9622(90)70304-z
更新日期:1990-11-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
doi:10.1016/s0190-9622(86)70061-3
更新日期:1986-03-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
doi:10.1016/0190-9622(90)70235-a
更新日期:1990-09-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章,评审
doi:10.1016/j.jaad.2013.02.025
更新日期:2013-09-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
doi:
更新日期:1989-08-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
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更新日期:2005-03-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章,评审
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更新日期:1992-07-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
doi:10.1016/j.jaad.2006.10.960
更新日期:2007-05-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
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更新日期:2005-07-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
pub_type: 共识发展会议,杂志文章
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更新日期:2012-08-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章,评审
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abstract::There has been a resurgence of syphilis in the past decade. Uncommonly, diffuse hair loss, termed essential alopecia, is the only sign of syphilitic infection. We describe two patients with syphilis in whom the first sign of disease was alopecia and discuss the clinical and histopathologic findings of essential syphil...
journal_title:Journal of the American Academy of Dermatology
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journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章
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更新日期:2016-04-01 00:00:00
abstract::Chemotherapy-induced alopecia is a distressing side effect common to certain treatment regimens in oncology. Unfortunately, chemotherapy-induced alopecia is an often overlooked or minor factor among our current research priorities and thus advances in amelioration have been minimal. This review offers a comprehensive ...
journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章,评审
doi:10.1016/j.jaad.2011.02.026
更新日期:2012-07-01 00:00:00
abstract::Novel tretinoin cream and gel formulations have been developed that incorporate polyolprepolymer-2, which is a material designed to help retain drug molecules in and on the skin when applied in topical vehicles. The results of preclinical and clinical investigations have confirmed the beneficial impact of such a vehic...
journal_title:Journal of the American Academy of Dermatology
pub_type: 杂志文章,评审
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更新日期:1998-04-01 00:00:00
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journal_title:Journal of the American Academy of Dermatology
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更新日期:2020-07-01 00:00:00