Abstract：
BACKGROUND:Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. OBJECTIVES:Our study's objectives were to describe the clinical characteristics of children with MNF. METHODS:We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012. Data were abstracted from health records and analysed using a standardised data collection form approved by our hospital Research Ethics Board. RESULTS:We identified 60 patients with MNF; 32 of 60 (53.3%) were female. Mean ± SD age at first assessment was 10.6 ± 4.6 years. The most common initial physical manifestation in 39 of 60 (65.0%) patients was localised pigmentary changes only, followed by plexiform neurofibromas only in 10 of 60 (16.7%) and neurofibromas only in 9 of 60 (15.0%). Unilateral findings were seen in 46 of 60 (76.7%) patients. Most common associations identified included learning disabilities (7/60; 12%) and bony abnormalities (6/60; 10.0%). CONCLUSIONS:MNF is an underrecognised condition with potential implications for patients. Children mostly present with pigmentary anomalies only. Most patients do not develop associated findings or complications before adulthood, but long-term follow-up will help determine outcomes and possible associations. Recognition and confirmation of the diagnosis is important to provide follow-up and genetic counselling to patients.
journal_name
J Cutan Med Surgjournal_title
Journal of cutaneous medicine and surgeryauthors
Lara-Corrales I,Moazzami M,García-Romero MT,Pope E,Parkin P,Shugar A,Kannu Pdoi
10.1177/1203475417708163subject
Has Abstractpub_date
2017-09-01 00:00:00pages
379-382issue
5eissn
1203-4754issn
1615-7109journal_volume
21pub_type
杂志文章abstract：BACKGROUND:Onychomycosis is a persistent fungal nail infection that is notoriously hard to treat. Approximately 20% to 25% of patients with onychomycosis do not respond to treatment, and 10% to 53% of patients relapse. As such, successful treatment is imperative for long-term disease management. OBJECTIVE:To identify ...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章,评审
doi：10.1177/1203475416653734
更新日期：2016-11-01 00:00:00
abstract：:We report a case of an 17-year-old male with a drug reaction in the spectrum of Stevens-Johnson syndrome (SJS)/toxic epidermal necrolysis (TEN), triggered by carbamazepine, who was succesfully treated with the combination of dexamethasone, cyclosporine, and etanercept. This triple therapy halted and prevented skin epi...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.1177/1203475419861078
更新日期：2019-09-01 00:00:00
abstract：BACKGROUND:Tumour size is a crucial factor used to plan Mohs procedures. Larger tumours require more time and stages of excision, and they need to be triaged as a higher priority. Therefore, the accuracy in measurement of tumour size is critical. OBJECTIVE:To investigate if there is a significant difference in accurac...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.1177/1203475416683391
更新日期：2017-05-01 00:00:00
abstract：BACKGROUND:Epidermolysis bullosa acquisita (EBA) is a chronic subepidermal blistering disease that is frequently resistant to therapy. OBJECTIVE:A 58-year-old man who had a one-year history of a bullous eruption involving the hands, forearms, trunk, scalp, and oral mucosa. Histopathology revealed a subepidermal bulla,...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.1007/s10227-001-0008-y
更新日期：2001-09-01 00:00:00
abstract：BACKGROUND:Amyloidosis refers to a group of depositional diseases that are classified into two main types: systemic and localized. Large nodules of localized cutaneous amyloidosis of the nasal ala and surrounding skin are rare and the treatment is often unsatisfactory. OBJECTIVE:We report a case of rapidly enlarging, ...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章,评审
doi：10.1007/BF02737862
更新日期：2001-03-01 00:00:00
abstract：BACKGROUND:The development of knowledge concerning the role of sun exposure in causing skin cancer has been a gradual one. OBJECTIVE:This article reviews the article by Urbach who used manikin coated with an ultraviolet dosimeter to see exactly where on the head and neck the exposure was greatest. CONCLUSION:Urbach s...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 传,历史文章,杂志文章
doi：10.1177/120347549900300302
更新日期：1999-01-01 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
doi：10.1177/1203475419857975
更新日期：2019-09-01 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
更新日期：2001-01-01 00:00:00
abstract：BACKGROUND:Cutaneous reactions to drugs are among the most common clinical manifestations of adverse drug events (ADEs); however, data on outpatient cutaneous adverse drug events (CADEs) are limited. PURPOSE:To provide national estimates of outpatient CADEs and determine their most frequent causes. METHODS:Outpatient...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.2310/7750.2013.12096
更新日期：2013-07-01 00:00:00
abstract：BACKGROUND:Cutaneous T-cell lymphoma is a rare subtype of posttransplantation lymphoproliferative disease, with only 29 cases reported in the literature to date, the majority of which are post-renal transplantation. Only a few were reported after pancreas, heart, and bone marrow transplantation. There have been no repo...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.1177/120347541201600114
更新日期：2012-01-01 00:00:00
abstract：BACKGROUND:Liquid nitrogen cryotherapy is a commonly used technique to treat a wide variety of dermatologic conditions including actinic keratoses, non-melanoma skin cancers, verrucae, and seborrheic keratoses. The risks associated with liquid nitrogen cryotherapy are important to know and discuss with patients prior t...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.1177/1203475417702152
更新日期：2017-07-01 00:00:00
abstract：BACKGROUND:A number of inflammatory and immune diseases are associated with vascular changes. Psoriasis, as an example, is a common inflammatory skin disease with dilation of capillaries as an early histological change. In more developed psoriatic lesions there is proliferation of blood vessels and neovascularization. ...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.1177/120347549800200307
更新日期：1998-01-01 00:00:00
abstract：:The duration of response to treatment with alefacept has been assessed in patients with moderate to severe chronic plaque psoriasis who responded to alefacept therapy in phase 2 and phase 3 clinical studies. In a phase 2 trial, duration of response was based on time to retreatment with alefacept. In two phase 3 studie...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章,评审
doi：10.1007/s10227-004-9503-2
更新日期：2004-12-01 00:00:00
abstract：:Psoriasis is a T-cell mediated skin disease that affects approximately 2% of the population worldwide. Despite the prevalence of the disease and long-standing efforts to develop strategies to treat it, there is a need for safe and effective therapies to treat psoriasis, particularly the more severe forms. Biological a...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章,评审
doi：10.1007/s10227-006-0103-1
更新日期：2006-01-01 00:00:00
abstract：:Psoriasis has been associated with a number of behavioral and systemic comorbidities, including psoriatic arthritis, anxiety, depression, obesity, hypertension, diabetes mellitus, hyperlipidemia, metabolic syndrome, smoking, cardiovascular disease, alcoholism, Crohn's disease, lymphoma, and multiple sclerosis. Many of...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章,评审
doi：10.2310/7750.2009.00024
更新日期：2009-09-01 00:00:00
abstract：BACKGROUND:Dermatofibrosarcoma protuberans with fibrosarcomatous differentiation (DFSP-FS) is a rare variant of DFSP with a more aggressive clinical course, characterized by higher rates of local recurrence, metastasis, and death. METHODS:We conducted a clinicopathologic review of all DFSP-FS cases that occurred in Al...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.2310/7750.2014.13192
更新日期：2015-01-01 00:00:00
abstract：BACKGROUND:Apligraf is a bioengineered skin product composed of neonatal fibroblasts and keratinocytes. The FDA has approved Apligraf for the treatment of chronic venous ulcers and diabetic ulcers. OBJECTIVE:We review the development of bioengineered skin, examine the cellular activities of various growth factors that...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章,评审
doi：10.1007/s10227-002-0106-5
更新日期：2003-05-01 00:00:00
abstract：BACKGROUND:Paget's disease is an extremely rare condition of the male breast that presents as an eczematous change of the nipple and areola. It is almost always associated with an underlying intraductal carcinoma. OBJECTIVE:A case of Paget's disease of the male breast with extension into adnexal structures is reported...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.1177/120347540000400408
更新日期：2000-10-01 00:00:00
abstract：BACKGROUND:Favre-Racouchot syndrome is a cutaneous disease characterized by nodules, cysts, and comedones that typically develops on sun-exposed areas of the face. This syndrome most commonly affects white males between the ages of 40 and 60 years and is frequently associated with chronic sun exposure and, more recentl...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.2310/7750.2013.13011
更新日期：2014-01-01 00:00:00
abstract：BACKGROUND:Skin cancer is extremely common. Epidemiological studies indicated that ultraviolet radiation (UV) is the primary cause for skin cancers, and that retinoic acid (RA) is able to inhibit this UV-induced skin carcinogenesis; however, the molecular mechanism of the anti-UV action of RA is unclear. OBJECTIVE:The...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.1177/120347540000400102
更新日期：2000-01-01 00:00:00
abstract：BACKGROUND:Oral psychostimulant (PS) drugs, the pharmacologic treatment of choice for attention-deficit/hyperactivity disorder (ADHD), have been associated with diseases of abnormal sensitivity to cold (DASC) such as Raynaud phenomenon and acrocyanosis. OBJECTIVES:In a cohort of pediatric patients with DASC, we sought...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.2310/7750.2014.14052
更新日期：2015-03-01 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
doi：10.1177/1203475416670368
更新日期：2017-01-01 00:00:00
abstract：BACKGROUND:Onychomycosis has several clinical presentations and is caused by various infectious organisms. OBJECTIVE:To provide guidance for selection of appropriate treatment. METHODS:The literature on onychomycosis management was reviewed to generate an evidence-based decision tree. RESULTS AND CONCLUSION:Several ...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章,评审
doi：10.2310/7750.2014.14090
更新日期：2015-05-01 00:00:00
abstract：BACKGROUND:Ear keloids continue to be a therapeutic challenge. OBJECTIVE:To evaluate the clinical success of a modified "oyster splint technique." METHODS:Ten patients with an ear keloid agreed to receive the compression therapy. After surgical removal, a compressive device made of acrylic resin was applied on top of...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.2310/7750.2011.10015
更新日期：2011-05-01 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
doi：10.2310/7750.2008.07071
更新日期：2008-09-01 00:00:00
abstract：:Leprosy reactions are acute inflammatory episodes that occur in the setting of Mycobacterium leprae infection. Precipitants of reactions can be pharmacologic and nonpharmacologic. Both type 1 and type 2 reactions typically occur before and during leprosy treatment but may also occur after treatment has been completed....
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.1177/1203475416644832
更新日期：2016-09-01 00:00:00
abstract：:Oral glucocorticoids are commonly used across every field of medicine; however, discontinuing them in patients can be challenging. The risk of acute adrenal crises secondary to glucocorticoid withdrawal can be fatal and arises from chronic suppression of the adrenal glands. Identifying risk factors for adrenal suppres...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章,评审
doi：10.1177/1203475417736278
更新日期：2018-03-01 00:00:00
abstract：BACKGROUND:Laser epilation is now used widely as a clinical alternative to electrolysis for the removal of unwanted hair. All of the laser systems presently being used produce a reliable temporary hair loss by inducing telogen. Most of the published studies use follow-up periods of 6 months or less after the last treat...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.1177/120347540000400208
更新日期：2000-04-01 00:00:00
abstract：BACKGROUND:Forty-nine years ago the first complete and authoritative English text on the physiology and biochemistry of the skin was published by Stephen Rothman, an early basic researcher in dermatology. OBJECTIVE:The purpose of the article is to learn more about Stephen Rothman and his 1954 text, to learn more about...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 传,历史文章,杂志文章
doi：10.1007/s10227-005-0040-4
更新日期：2004-09-01 00:00:00
abstract：:Larva currens is the cutaneous manifestation of human infection with the geotropic helminth Strongyloides stercoralis. Strongyloidiasis is a lifelong infection unless treated. A high index of suspicion is needed to prevent chronic symptoms of strongyloidiasis (eg, larva currens, eosinophilia, abdominal discomfort) and...
journal_title：Journal of cutaneous medicine and surgery
pub_type： 杂志文章
doi：10.1177/1203475415575247
更新日期：2015-07-01 00:00:00
