Abstract:
BACKGROUND:In 1997, it was reported that a PTEN gene deletion, a common genetic mutation in Cowden's disease (CD), was identified in a patient with Bannayan-Riley-Ruvacalba (BRR), suggesting that the two diseases were allelic. However, the clinical overlap between the two diseases has largely remained unclear. OBJECTIVE:To confirm the genetic and clinical association in a family segregating both CD and BRR. METHODS:Clinical evaluation and genetic analysis using a denaturing gradient gel electrophoresis (DGGE), temporal temperature gradient electrophoresis (TTGE), and DNA sequencing techniques. RESULTS:Our patient presents with typical BRR clinical manifestations, including multiple lentigines on his penis, while his mother presents with typical manifestations of CD, including multiple malignancies. Genetic analyses of leukocytes from the patient and his mother showed mutations in exon 8 that was identified as the presumably truncating mutation R335X. CONCLUSION:This report provides clinical evidence that both BRR and CD are closely related and confirms the PTEN gene mutation in BRR and CD patients segregating in the same family, thus confirming the genetic linkage between the two genodermatoses.
journal_name
J Cutan Med Surgjournal_title
Journal of cutaneous medicine and surgeryauthors
Blum RR,Rahimizadeh A,Kardon N,Lebwohl M,Wei Hdoi
10.1177/120347540100500307subject
Has Abstractpub_date
2001-05-01 00:00:00pages
228-30issue
3eissn
1203-4754issn
1615-7109journal_volume
5pub_type
杂志文章abstract:BACKGROUND:Elephantiasis is a well-known condition in dermatology usually affecting the legs and external genitalia. It is characterized by chronic inflammation and obstruction of the lymphatic channels and by hypertrophy of the skin and subcutaneous tissues. The etiology is either idiopathic or caused by a variety of ...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章
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更新日期:2004-07-01 00:00:00
abstract:BACKGROUND:The self-inflicted dermatoses such as acne excorieé and neurotic excoriations are often chronic, recurring, and resistant to standard dermatologic therapies. OBJECTIVE:We present a 28-year-old woman with longstanding acne excorieé, whose acne started at age 14 years and was followed by acne excorieé at age ...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章
doi:10.1177/120347540100500106
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abstract::Juvenile xanthogranuloma (JXG) is a member of the non-Langerhans cell group of proliferative disorders of mononuclear phagocytes. JXG is a benign tumour of histiocytic cells. Classic JXG is divided into 2 main clinical subtypes: dome-shaped papules (<0.5 cm) and single/multiple nodules (<2.0 cm). A rare variant is ref...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章,评审
doi:10.1177/1203475418777734
更新日期:2018-09-01 00:00:00
abstract:BACKGROUND:Schnitzler syndrome (SS) is a rare autoinflammatory disorder characterized by a recurrent urticarial rash and a monoclonal immunoglobulin M gammopathy, as well as 2 of the following minor criteria: recurrent fever (>38°C), objective signs of abnormal bone remodeling, elevated C-reactive protein level or leuk...
journal_title:Journal of cutaneous medicine and surgery
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doi:10.1177/1203475416657999
更新日期:2016-11-01 00:00:00
abstract:BACKGROUND:Hybrid skin adnexal tumors are common, and spiradenocylindroma is well described. OBJECTIVE:However, malignant transformation in this setting is infrequent, especially resemblance to lymphoepithelioma-like carcinoma of skin, which is not associated with Epstein-Barr virus. METHODS:A 65-year-old female pres...
journal_title:Journal of cutaneous medicine and surgery
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doi:10.2310/7750.2008.08059
更新日期:2009-07-01 00:00:00
abstract:BACKGROUND:All kinds of bees, wasps, and hornets are members of the hymenoptera order. Local hypersensitivity reactions after bee stings are very common and well studied. However, tissue necroses following untreated bee stings are extremely rare and they are not well documented. OBJECTIVE:Two extremely rare cases of e...
journal_title:Journal of cutaneous medicine and surgery
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doi:10.1177/120347540300700207
更新日期:2003-03-01 00:00:00
abstract:BACKGROUND:PASI is an inadequate outcome measure for the assessment of psoriasis treatments. No currently used endpoints provide a benefit: risk assessment of treatment taking into consideration all available efficacy and safety data. OBJECTIVE:To propose a new outcome measure called "safe psoriasis control" (SPC), wh...
journal_title:Journal of cutaneous medicine and surgery
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更新日期:2005-12-01 00:00:00
abstract:BACKGROUND:Hand dermatitis (HD) is one of the most common skin conditions; however, it is not a homogeneous disease entity. The severity of HD may range from very mild cases to severe chronic forms, which may result in prolonged disability and, occasionally, refractory HD. Chronic hand dermatitis (CHD) is associated wi...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章,评审
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更新日期:2010-11-01 00:00:00
abstract:BACKGROUND:To date, there is no standard treatment of folliculitis decalvans (FD), a rare type of cicatricial alopecia. OBJECTIVE AND METHODS:The records of 23 patients with FD (1998-2012) were retrospectively analyzed, with added data review on the course and treatment of long-standing cases. RESULTS:Initial managem...
journal_title:Journal of cutaneous medicine and surgery
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doi:
更新日期:2014-10-01 00:00:00
abstract:BACKGROUND:Intralesional Candida antigen has been used as immunotherapy to treat refractory warts in the immunocompetent pediatric and adult populations but has not been reported in individuals with human immunodeficiency virus (HIV). PURPOSE:To examine if Candida antigen resulted in clearance of medically refractory,...
journal_title:Journal of cutaneous medicine and surgery
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更新日期:2013-09-01 00:00:00
abstract:BACKGROUND:In 1995, a Rosacea Awareness Program (RAP) was initiated in Canada to make available educational resources for physicians and rosacea patients. Material is in French or English, and is accessible though physician offices and by toll-free telephone. Information was communicated to the public via noncommercial...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章
doi:10.1177/120347549900300403
更新日期:1999-04-01 00:00:00
abstract:BACKGROUND:Dabrafenib, a novel selective small-molecule inhibitor of BRAF, has been shown to increase overall survival in patients with unresectable metastatic melanoma harboring the BRAF V600E mutation. The development of resistance has led to combination therapy with selective MEK inhibitor trametinib. Compared with ...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章
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更新日期:2017-01-01 00:00:00
abstract::Atopic dermatitis (AD) is the most common pediatric chronic inflammatory skin disease in North America, often involving complex treatment regimens and impairing the quality of life of affected children and their families. Two topical calcineurin inhibitors (TCIs) have been available for the treatment of AD in pediatri...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章,评审
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更新日期:2019-09-01 00:00:00
abstract:BACKGROUND:An eczema action plan (EAP) is an individualized tool to help caregivers and patients self-manage eczema. While novel illustrated EAPs have been developed and validated, there is limited literature examining the value of EAPs from patient and caregiver perspectives. OBJECTIVES:The objective of this study wa...
journal_title:Journal of cutaneous medicine and surgery
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更新日期:2018-11-01 00:00:00
abstract:BACKGROUND:Crohn disease of the vulva is a rare disease that is difficult to diagnose. There are limited reports describing treatment of this condition. OBJECTIVE:To describe the diagnosis and treatment of a 16-year-old girl with Crohn disease of the vulva, without onset of intestinal symptoms. METHODS:Crohn disease ...
journal_title:Journal of cutaneous medicine and surgery
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更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Optimal aesthetic results are achieved when nasal defects after Mohs micrographic surgery (MMS) are reconstructed as entire nasal subunits. OBJECTIVE:To illustrate the importance of reconstructing the nose in entire subunits and explore the possibilities of expanding the principles of subunit reconstruction...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章
doi:10.1177/1203475416629594
更新日期:2016-07-01 00:00:00
abstract::Psoriasis is a common inflammatory disease with significant comorbidities, whose management can be challenging given the variety of treatment options. It is critical for nurse practitioners, physician assistants, general practitioners, and dermatology trainees to have useful information about the treatment and monitor...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章,评审
doi:10.1177/1203475415623508
更新日期:2016-05-01 00:00:00
abstract::Acne vulgaris, a condition that can affect people at any age, is the most common cause of referral to a dermatologist. Isotretinoin (ITT) is the most effective treatment available, but serious adverse effects, including a possible association with depression and suicide, limit its use. We review the current literature...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章,评审
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更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:The number of dermatology residency positions in Canada has not reflected the growing workforce shortage. Until 2005, all dermatology residents at the University of Ottawa were committed to return to their funding area at the completion of their training. This has left Eastern Ontario with a critical shortag...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章
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abstract:BACKGROUND:Molluscum contagiosum is a viral infection of the skin that is widely considered to be a self-resolving disease that can be treated with benign neglect. However, the clinical reality is that the disease can vary widely by anatomic site and by recalcitrance to treatment and remains a significant cause of morb...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章,评审
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abstract:BACKGROUND:Patient nonattendance is a frequent occurrence in dermatology clinics, and our responsibility regarding the follow-up of these patients remains nebulous. OBJECTIVE:This study sought to evaluate the beliefs and practices of physicians at a university-affiliated medical dermatology clinic regarding patient no...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章
doi:10.2310/7750.2011.11004
更新日期:2012-03-01 00:00:00
abstract:BACKGROUND:Mast cells stimulate inflammation and itch sensation in the skin by releasing various mediators when they are activated. Stress exacerbates some skin diseases. We have reported that inhalation of certain odorants modulates immune reactions in the skin. OBJECTIVE:The possible usage of odorants in the regulat...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章
doi:10.1007/s10227-002-0129-y
更新日期:2003-07-01 00:00:00
abstract::We present the extraordinary case of a 72-year-old man with a history of primary cutaneous peripheral T-cell lymphoma not otherwise specified (pcPTCL-NOS) previously controlled with topical agents who developed tumours in a sporotrichoid pattern. Culture of the tumours was negative, and histopathology showed findings ...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章
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更新日期:2017-11-01 00:00:00
abstract:BACKGROUND:Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by massive infection with human papillomaviruses (HPVs) and development of skin cancer. Myelodysplastic syndromes (MDSs) are a group of chronic conditions that involve dysplastic hematopoiesis, peripheral blood cytopenias, and a high...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章
doi:10.2310/7750.2009.08049
更新日期:2009-11-01 00:00:00
abstract:BACKGROUND:Erosive lichen planus is a painful and disabling disease that is frequently resistant to topical and systemic therapies. Current therapies are considered palliative rather than curative as many patients relapse after discontinuing treatment. An association has been reported between some cases of oral lichen ...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章
doi:10.1007/s10227-005-0038-y
更新日期:2005-04-01 00:00:00
abstract::Atopic dermatitis is one of the most common skin disorders in the developed world, affecting up to 20% of children and 1% to 3% of adults. This review concisely explains the pathophysiology and epidemiology of atopic dermatitis, as well as potential challenges facing its successful treatment. Furthermore, mainstay top...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章,评审
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更新日期:2017-05-01 00:00:00
abstract::The Maintenance of Certification (MOC) Program administered by the Royal College of Physicians and Surgeons applies to all Fellows of the Royal College including dermatologists. It is mandatory for those who wish to maintain their fellowship in the Royal College and can be critical for maintaining licensure requiremen...
journal_title:Journal of cutaneous medicine and surgery
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更新日期:2017-07-01 00:00:00
abstract:BACKGROUND:Cellular angiofibroma is a benign and rare tumor. It usually arises in middle-aged women and involves the vulva. Complete local excision of the tumor is the best cure, and, usually, there is no recurrence after surgery. CASE REPORT:We describe a 20-year-old woman with a painless, growing vulvar mass who pre...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章
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更新日期:2014-05-01 00:00:00
abstract:BACKGROUND:Linear scleroderma, also known as "en coup de sabre," is a subtype of localized scleroderma that warrants aesthetic correction because it appears on the forehead region in children. OBJECTIVE:To report dermal fat grafting as a novel and effective surgical treatment option in linear scleroderma. METHODS:Und...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章
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更新日期:2016-05-01 00:00:00
abstract:BACKGROUND:Bullous pemphigoid (BP) is an autoimmune polymorphic skin disease characterized by erythematous papules and plaques and tense bullae. A skin biopsy for direct immunofluorescence (DIF) is used to detect autoantibodies and complement proteins. OBJECTIVE:We sought to determine which location would provide the ...
journal_title:Journal of cutaneous medicine and surgery
pub_type: 杂志文章
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更新日期:2014-11-01 00:00:00