Abstract:
:A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the folliculin gene. The presence of multiple and typical benign hair follicle tumors highlights the role of the dermatologist in the diagnosis of this rare genodermatosis that is associated with an increased risk of renal cell cancer and pulmonary cysts, warranting personal and familial follow-up and counseling.
journal_name
An Bras Dermatoljournal_title
Anais brasileiros de dermatologiaauthors
Lencastre A,Ponte P,Apetato M,Nunes L,Lestre Sdoi
10.1590/abd1806-4841.20132199subject
Has Abstractpub_date
2013-11-01 00:00:00pages
203-5issue
6 Suppl 1eissn
0365-0596issn
1806-4841pii
S0365-05962013000800203journal_volume
88pub_type
杂志文章abstract::The recent development of high-frequency ultrasound, associated with the improved sensitivity in color Doppler, enabled the identification of various skin structures and layers. In basal cell carcinoma, the 22 MHz frequency ultrasound permits the delimitation of tumor margins, while color Doppler, determines its vascu...
journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章
doi:10.1590/abd1806-4841.20143176
更新日期:2014-09-01 00:00:00
abstract::Vitiligo is a dermatosis of difficult treatment and significant psychosocial impact. The objective of this study was to evaluate the response to tacrolimus 0,1% ointment for vitiligo treatment. Ten patients took part in the present study: six patients with lesions on the cephalic and cervical regions had more than 75%...
journal_title:Anais brasileiros de dermatologia
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doi:10.1590/s0365-05962011000100034
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doi:10.1590/abd1806-4841.20175555
更新日期:2017-01-01 00:00:00
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journal_title:Anais brasileiros de dermatologia
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doi:10.1590/abd1806-4841.20153498
更新日期:2015-07-01 00:00:00
abstract::We report the case of a 47-year-old male patient with S100 negative granular cell tumor of the oral cavity, focusing on dermoscopic features as well as surgical approach, not previously reported in the literature. The study contributes to the literature on dermoscopy and surgical treatment for this tumor and provides ...
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doi:10.1590/abd1806-4841.20197442
更新日期:2019-01-01 00:00:00
abstract::A mosaic is an organism composed of two or more genetically distinct cell populations derived from a genetically homogeneous zygote. Cutaneous mosaicisms are the clinical expressions of these disorders. The main event which allows the existence of mosaicism is a genetic mutation, either structural or functional. Cutan...
journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章,评审
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更新日期:2013-07-01 00:00:00
abstract::The purpose of this study is to compare scanning electron microscopy findings of the blister roof in three distinct bullous diseases: one intraepidermal acantholytic (pemphigus foliaceus); one due to hemidesmosomal dysfunction (bullous pemphigoid); and one secondary to anchoring fibril dysfunction - type VII collagen ...
journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章
doi:10.1590/abd1806-4841.20142161
更新日期:2014-03-01 00:00:00
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journal_title:Anais brasileiros de dermatologia
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doi:10.1590/s0365-05962010000300010
更新日期:2010-05-01 00:00:00
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journal_title:Anais brasileiros de dermatologia
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abstract::Pyoderma gangrenosum is a rare neutrophilic dermatosis of unknown etiology, of which the most frequent clinical manifestations are ulcers. The diagnosis difficulty is, among other things, to rule out other causes of ulcers, since it is considered a diagnosis of exclusion. Skin ulcerations may also occur in the iliac v...
journal_title:Anais brasileiros de dermatologia
pub_type:
doi:10.1590/abd1806-4841.20176109
更新日期:2017-01-01 00:00:00
abstract::Eosinophilic cellulitis or Wells syndrome is an uncommon skin condition of unknown etiology that can occur alone or associated with other conditions. Typically, it presents with recurrent pruritic, erythematous and edematous plaques, but it can also show clinical polymorphism. Besides the cutaneous lesions, patients c...
journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章
doi:10.1590/abd1806-4841.20153212
更新日期:2015-07-01 00:00:00
abstract:BACKGROUND:Atopic dermatitis is an inflammatory skin disease that can be triggered by many factors. Several reports confirm the role of airborne allergic agents as aggravating or triggering factors. The patch test with airborne allergic agents or the atopy patch test was suggested to evaluate the role of these allergen...
journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章
doi:10.1590/s0365-05962011000100004
更新日期:2011-01-01 00:00:00
abstract::Researches on DH have shown that it is not just a bullous skin disease, but a cutaneous-intestinal disorder caused by hypersensitivity to gluten. Exposure to gluten is the starting point of an inflammatory cascade capable of forming autoantibodies that are brought to the skin, where they are deposited, culminating in ...
journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章
doi:10.1590/abd1806-4841.20142966
更新日期:2014-11-01 00:00:00
abstract:BACKGROUND:In highly endemic countries, transmission and sub-clinical infection of leprosy are likely and the disease manifests itself in individuals without any known close contact with a leprosy patient. Health workers are social contacts belonging to the same network (the Health System) and some of them share the sa...
journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章
doi:10.1590/abd1806-4841.20132139
更新日期:2013-11-01 00:00:00
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journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章,评审
doi:10.1590/s0365-05962010000400011
更新日期:2010-07-01 00:00:00
abstract:Background::Psoriasis is a chronic, inflammatory, relapsing skin disease that has a psychosocial impact on the patients' life. Objective::This study aimed to investigate psychopathology in patients with psoriasis based on a valid psychometric instrument, as well as on the relationship between psychopathology and alexi...
journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章
doi:10.1590/abd1806-4841.20175660
更新日期:2017-07-01 00:00:00
abstract::This report concerns an AIDS patient presenting systemic and cutaneous manifestations of histoplasmosis. A histopathological and mycological examination of the skin lesion confirmed the diagnosis. In AIDS patients histoplasmosis arises mainly when the T-CD4+ cell count is less than 50 cells/mm3. In such cases, histopl...
journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章
doi:10.1590/s0365-05962011000500028
更新日期:2011-09-01 00:00:00
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journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章,评审
doi:10.1590/abd1806-4841.20187459
更新日期:2018-06-01 00:00:00
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journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章
doi:10.1590/abd1806-4841.20132398
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journal_title:Anais brasileiros de dermatologia
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doi:10.1590/abd1806-4841.20131930
更新日期:2013-05-01 00:00:00
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journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章
doi:10.1590/s0365-05962010000600022
更新日期:2010-11-01 00:00:00
abstract::An 86-year-old woman was referred for treatment of a lentigo maligna melanoma on the left earlobe, confirmed by cutaneous biopsy. The resulting surgical defect involved the earlobe's full thickness. The authors outline a simple method for reconstructing the entire lobe in one stage, without grafts, whilst offering a p...
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doi:10.1590/abd1806-4841.20163897
更新日期:2016-05-01 00:00:00
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journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章
doi:10.1590/abd1806-4841.20187409
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:Skin cancer is common in Brazil and is related to sun exposure, among other risk factors. There are no data on the incidence of malignant skin neoplasm in rural workers in western Paraná. OBJECTIVE:To analyze the incidence and profile of rural workers who were diagnosed with skin cancer at a reference servi...
journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章
doi:10.1590/abd1806-4841.20197335
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND:Superficial mycoses are fungal infections limited to the outermost layers of the skin. Dermatophytic filamentous fungi and yeasts are the major causative agents of these mycoses. Dermatophytosis is one of the clinical conditions caused by fungal infections most commonly found in dermatological practice. Thus...
journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章
doi:10.1590/abd1806-4841.20141783
更新日期:2014-01-01 00:00:00
abstract::Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. Due to the reduction or absence of melanin, albinos are highly susceptible to the harmful effects of ultraviolet radiation and are at increased risk of actinic damage and skin ca...
journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章,评审
doi:10.1016/j.abd.2019.09.023
更新日期:2019-01-01 00:00:00
abstract::Vegetative chronic genital herpes is an atypical presentation of herpes simplex 2 that it is usually seen in patients coinfected with human immunodeficiency virus. Clinically, it is characterized by extensive ulcers that evolve to chronification and hypertrophic pseudotumor forms. Antiviral drugs are recommended for t...
journal_title:Anais brasileiros de dermatologia
pub_type:
doi:10.1590/abd1806-4841.20198014
更新日期:2019-03-01 00:00:00
abstract::A case of a tinea favosa involving the scalp of a child represented in the painting "Boys climbing a tree" (Muchachos trepando a un árbol), by Francisco Goya y Lucientes, with pictorial representation of favic scutula and consequent alopecia. ...
journal_title:Anais brasileiros de dermatologia
pub_type: 传,历史文章,杂志文章
doi:10.1590/abd1806-4841.20143262
更新日期:2014-11-01 00:00:00
abstract:BACKGROUND:The Clinical Trial for Uniform Multidrug Therapy for Leprosy Patients in Brazil (U-MDT/CT-BR), designed to evaluate the effectiveness of a six-months regimen, assessed the adverse effects caused by the drugs. OBJECTIVE:Describe adverse effects due to MDT in U-MDT/CT-BR, comparing the uniform regimen (U-MDT)...
journal_title:Anais brasileiros de dermatologia
pub_type: 杂志文章,随机对照试验
doi:10.1590/abd1806-4841.20186709
更新日期:2018-06-01 00:00:00