Abstract:
BACKGROUND:Basal cell carcinomas (BCCs) are the most frequent human cancer that results from malignant transformation of basal cells in the epidermis. Gorlin syndrome is a rare inherited autosomal dominant disease that predisposes with multiple BCCs and other birth defects. Both sporadic and inherited BCCs are associated with mutations in the tumor suppressor gene PTCH1, but there is still uncertainty on the role of its homolog PTCH2. OBJECTIVES:To search for mutations and genomic instability in sporadic and inherited BCCs. METHODS:DNA obtained from leukocytes and tumor cells was amplified by polymerase chain reaction regarding five exons of PTCH1 and PTCH2 and neighboring microsatellites. Exons were sequenced and compared with the GenBank database. RESULTS:Only D9S180, of six microsatellites, showed loss of heterozygosity in three BCCs (two sporadic and one inherited). One sporadic BCC presented the mutation g.2885G>C in exon 17 of PTCH1, which predicts the substitution p.R962T in an external domain of the protein. In addition, the leukocytes and tumor cells of one patient with Gorlin syndrome showed the mutation g.2839T>G in the same exon and gene, which predicts a p.E947stop and truncated protein. All control and tumor samples presented IVS9 + 217T in intron 9 of PTCH1. CONCLUSION:Mutations found in the PTCH1 gene and neighboring repetitive sequences may have contributed to the development of the studied BCCs.
journal_name
Int J Dermatoljournal_title
International journal of dermatologyauthors
Santos DC,Zaphiropoulos PG,Neto CF,Pimentel ER,Sanches JA Jr,Ruiz IRdoi
10.1111/j.1365-4632.2010.04866.xsubject
Has Abstractpub_date
2011-07-01 00:00:00pages
838-43issue
7eissn
0011-9059issn
1365-4632journal_volume
50pub_type
杂志文章abstract::Dowling-Degos disease is a rare autosomal dominant genodermatosis. It is characterized by acquired reticulate hyperpigmentation over the flexures, comedone-like follicular papules, and pitted perioral scars that usually develop during adulthood. Mutations in genes affecting melanosome transfer, and melanocyte and kera...
journal_title:International journal of dermatology
pub_type: 杂志文章,评审
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更新日期:2020-12-23 00:00:00
abstract::Squamous cell carcinoma (scc) of the skin was studied in two similar populations, one living in the temperate zone of Australia, the other living in the tropics. In the tropics, the patients were significantly younger, the man to woman ratio approached unity, and women had significantly more sccs on the legs. In the t...
journal_title:International journal of dermatology
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abstract:BACKGROUND:The 180-kDa transmembrane hemidesmosomal protein (BPAG2) has been identified as an important autoantigen in bullous pemphigoid (BP). Using the NC16A domain as the antigenic target, a highly sensitive and specific enzyme-linked immunosorbent assay (ELISA) for the detection of autoantibodies to BP180 was devel...
journal_title:International journal of dermatology
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abstract:BACKGROUND:Millions of people are infested by head lice every year. However, louse transfer between hosts is not well-understood. Our goals were to determine: (1) which stages were most likely to disperse and why, (2) the likelihood of fomites transmission, and (3) if host blood gender affects louse development. METHO...
journal_title:International journal of dermatology
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doi:10.1111/j.1365-4632.2005.02418.x
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abstract::A survey on communicable dermatoses in economically weak villages in India showed wide variations in prevalence rates in similar ecologic setup. A skin diseases, on-spot-treatment, 1-day-camp was organized to treat 1787 subjects in five villages. Two applications of 1% lindane 1 week apart was the only treatment used ...
journal_title:International journal of dermatology
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doi:10.1111/j.1365-4362.1985.tb05790.x
更新日期:1985-06-01 00:00:00
abstract::A 40-year-old black man who was HIV positive developed generalized hypertrophic lichen planus in areas previously affected by a photosensitivity eruption. After unsuccessful attempts to induce remission of his lichen planus with conventional therapies, etretinate produced a dramatic response. ...
journal_title:International journal of dermatology
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doi:10.1111/j.1365-4362.1988.tb02423.x
更新日期:1988-11-01 00:00:00
abstract::Overproduction of sweat, sweaty skin, and body malodors are felt unpleasant by many people in diverse social groups. This review summarizes the functional aspects of the eccrine, apocrine, and apoeccrine sweat glands as encountered in health and disease. A series of measuring methods are conveniently used to explore a...
journal_title:International journal of dermatology
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abstract:BACKGROUND:The patient with xeroderma pigmentosum provides an appropriate human model for the evaluation of tumor development and progression. METHODS:We describe a patient with variant-type xeroderma pigmentosum who developed actinic keratoses, a squamous cell carcinoma, and its metastasis into a lymph node. DNA ploi...
journal_title:International journal of dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-4362.1994.tb00990.x
更新日期:1994-11-01 00:00:00
abstract:BACKGROUND:Patterns of skin disease in developing nations are changing as frequencies of non-communicable diseases continue to increase. Appraisal of the current status of the disease profile is of utmost importance for health planning and resource allocation. METHODS:A prospective analysis of 895 cases of outpatient ...
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abstract:BACKGROUND:The clinical morphology of anogenital warts may vary from flat, filiform, papular, or verrucous to giant condyloma acuminatum. Clinically atypical-looking genital warts may alarm the clinician because of their suspected malignant potential, which may cause anxiety, often leading to aggressive interventions. ...
journal_title:International journal of dermatology
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abstract:BACKGROUND:Harlequin ichthyosis (HI) is a severe genetic disorder caused by the mutation in the ABCA12 gene. Infants born with this condition have markedly thickened, hard stratum corneum skin all over the body. METHODS:A female child born with a thick white plate of skin with deep cracks all over the body was investi...
journal_title:International journal of dermatology
pub_type: 杂志文章
doi:10.1111/ijd.13923
更新日期:2018-04-01 00:00:00
abstract::Demodecidosis is an ectoparasitosis that is infrequently observed in subjects with human immunodeficiency virus (HIV) infection. It has a rosacea-like presentation. We present three cases in patients with acquired immunodeficiency syndrome (AIDS). Two of these patients had a profuse eruption, and all three cases were ...
journal_title:International journal of dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-4632.2006.02924.x
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abstract:BACKGROUND:The cosmetic importance of hair as a unique structure of the scalp is immense, such that once the loss of hair becomes an issue for a child, parents, in most cases, project their own concerns, often expressed as guilt. The clinical presentation of hair loss and scalp disorders in children varies widely, ofte...
journal_title:International journal of dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-4632.2007.03457.x
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abstract::Sebaceous cysts are benign enveloped nodules resulting from an obstruction of a hair follicle. Although they are very common, differential diagnosis is not obvious and may include many diseases. Ultrasound examination with high frequency probes, in the hands of a skilled operator, is the gold standard for noninvasive ...
journal_title:International journal of dermatology
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更新日期:2019-12-01 00:00:00
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journal_title:International journal of dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-4632.2010.04423.x
更新日期:2010-05-01 00:00:00
abstract::A Chinese baby girl was born after an uncomplicated pregnancy and a normal spontaneous vaginal delivery to a gravida 2, para 1, 32-year-old mother at 37 weeks' gestation. Neither parent had a history of alcohol or drug ingestion. There was no history of consanguinity. The Apgar scores were 7 at 1 min and 9 at 5 min. H...
journal_title:International journal of dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-4362.2001.01212-4.x
更新日期:2001-04-01 00:00:00
abstract::Acquired facial hyperpigmentation is a common problem among African patients, particularly women, where the causes of the dermatoses are identified largely from circumstantial evidence of exposure to known agents. These include hydroquinone-induced exogenous ochronosis from skin-bleaching creams, mercury deposits from...
journal_title:International journal of dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-4362.1991.tb03848.x
更新日期:1991-03-01 00:00:00
abstract::Allergic reactions to insulin, although very common, are usually mild and self-limited. Many persistent effects can be corrected by simple means available to the discerning physician. In a few patients, however, they are severe and cause extreme morbidity or even mortality. These patients need to be recognized promptl...
journal_title:International journal of dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-4362.1980.tb00277.x
更新日期:1980-04-01 00:00:00
abstract:INTRODUCTION:Diffuse dermal angiomatosis is an entity in the spectrum of reactive angiomatoses characterized by erythematous plaques that mainly affect the lower extremities of patients with a personal history of peripheral vascular disease. Involvement of the breast is a rare event that has only been described as sing...
journal_title:International journal of dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-4632.2012.05812.x
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journal_title:International journal of dermatology
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doi:10.1111/j.1365-4362.1980.tb00259.x
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journal_title:International journal of dermatology
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doi:10.1111/j.1365-4632.2006.02919.x
更新日期:2006-12-01 00:00:00
abstract:BACKGROUND:Tinea versicolor (TV) is commonly described on the trunk without giving attention to involvement of the scalp. We examined cases with dandruff with and without TV on the body to see how frequent Malassezia furfur (M. furfur) is present in dandruff scales. METHODS:A total of 80 patients were examined mycolog...
journal_title:International journal of dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-4362.1995.tb02946.x
更新日期:1995-08-01 00:00:00
abstract::In order to deliver equal healthcare access to resource-poor settings, sustainable, cost-effective systems of communication should be used. As mobile phone use increases, remote care can be delivered via teledermatology using Apps. This commentary covers how WhatsApp could be used by dermatologists seeking to deliver ...
journal_title:International journal of dermatology
pub_type: 杂志文章
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更新日期:2019-02-01 00:00:00
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journal_title:International journal of dermatology
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更新日期:2017-06-01 00:00:00
abstract:BACKGROUND:Dandruff is a common scalp condition characterized by flakes, pruritus and sometimes mild erythema. These symptoms reflect underlying histopathologic and biochemical events that must be reversed if treatment is to be effective. OBJECTIVES:This study aimed to better characterize the state of the epidermis in...
journal_title:International journal of dermatology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-4632.2010.04629.x
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:A study was conducted to determine the chief agents of superficial mycoses in Malta. Data were collected over a 5-year period from mycologic investigations carried out on all dermatologic specimens sent to the Mycology Laboratory at St. Luke's Hospital in Malta. METHODS:In the period between January 1995 an...
journal_title:International journal of dermatology
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doi:10.1046/j.1365-4362.2003.01789.x
更新日期:2003-04-01 00:00:00
abstract::Methotrexate, the most common systemic small molecule used in the treatment of moderate to severe psoriasis, is associated with significant toxicities and adverse events. Long-term continuous usage is not recommended due to potential liver toxicity, myelosuppression, and other side effects. Abrupt cessation of methotr...
journal_title:International journal of dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-4632.2008.03419.x
更新日期:2008-02-01 00:00:00
abstract::Peripheral blood lymphocyte assays using monoclonal antibodies were done in 66 patients with leprosy, consisting of 25 children and 41 adults. The results were statistically analyzed for correlations, if any, among the different age groups and matched controls. The results, however, failed to show any significant corr...
journal_title:International journal of dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-4362.1991.tb04786.x
更新日期:1991-11-01 00:00:00
abstract::Actinic granuloma is a rare skin disorder that develops in an area of actinic elastosis. The pathogenesis of the disease is obscure but the most accepted hypothesis implicates the solar radiation as the triggering factor. Typically the disease presents in middle-aged individuals with significant past sun-exposure and ...
journal_title:International journal of dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-4632.2005.02043.x
更新日期:2005-02-01 00:00:00
abstract:BACKGROUND:Regulatory T cells (Tregs) play an important role in autoimmune diseases. In skin, the presence of Tregs is thought to be mandatory for suppression of autoreactive T cells. Here, we assess the number of Tregs in skin of healthy subjects and patients with an autoimmune dermatosis. METHODS:Immunohistochemical...
journal_title:International journal of dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-4632.2012.05808.x
更新日期:2014-03-01 00:00:00