Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 11.246
Filtrar
1.
J Toxicol Sci ; 49(9): 385-398, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39231683

RESUMO

We conducted a two-year inhalation study of butyraldehyde using F344/DuCrlCrlj rats. The rats were exposed to 0, 300, 1,000 and 3,000 ppm (v/v) for 6 hr/day, 5 days/ week for 104 weeks using whole-body inhalation chambers. The incidence of squamous cell carcinoma of the nasal cavity was increased in the 3,000 ppm groups of both male and female rats, with Fisher's exact test and the Peto test indicating that the incidence was significant. In addition to squamous cell carcinoma in the nasal cavity, in the 3,000 ppm groups one male had an adenosquamous carcinoma, one male had a carcinosarcoma, one male had a sarcoma NOS (Not Otherwise Specified), and one female had a squamous cell papilloma in the nasal cavity. The combined incidence of squamous cell carcinoma, adenosquamous carcinoma and carcinosarcoma was significantly increased in male rats and the combined incidence of squamous cell papilloma and carcinoma was significantly increased in female. Based on these results, we conclude that there is clear evidence of butyraldehyde carcinogenicity in male and female rats.


Assuntos
Carcinoma de Células Escamosas , Ratos Endogâmicos F344 , Animais , Masculino , Feminino , Carcinoma de Células Escamosas/induzido quimicamente , Carcinoma Adenoescamoso/induzido quimicamente , Carcinoma Adenoescamoso/patologia , Administração por Inalação , Neoplasias Nasais/induzido quimicamente , Carcinossarcoma/induzido quimicamente , Carcinossarcoma/patologia , Carcinógenos/toxicidade , Carcinógenos/administração & dosagem , Testes de Carcinogenicidade , Exposição por Inalação/efeitos adversos , Ratos , Fatores de Tempo , Papiloma/induzido quimicamente , Papiloma/patologia
2.
Vestn Otorinolaringol ; 89(3): 4-10, 2024.
Artigo em Russo | MEDLINE | ID: mdl-39104266

RESUMO

OBJECTIVE: To evaluate the incidence of laryngeal papillomatosis (LP) and LP recurrence in adults and to determine the risk factors for the development of LP recurrence in adults in Moscow. To solve the tasks set, a survey of patients carried out, including the collection of complaints and anamnesis, a standard examination of the ENT organs, an assessment of the condition of the larynx, and a histological examination. MATERIAL AND METHODS: We conducted a retrospective analysis of the case histories of 299 patients with LP observed and treated at the Sverzhevsky Research and Clinical Institute of Otorhinolaryngology in the period 2010-2020. RESULTS: On average, over the entire study period, the prevalence of PG was 17.80%. It was found that out of 299 patients, 69.6% (n=208) had a relapse of LP. Papilloma of the larynx were more often localized in the glottis. 275 (92%) patients had a widespread form of LP. LP recurrences were significantly more common in women and in patients with an existing cicatricle process in the larynx. The relapse rate was higher in non-smokers (73.5% vs 47.8%; p<0.001). Although the recurrence rate was higher in patients with non-voice occupations (70.6% vs. 52.9%), there was no statistically significant association between relapses and the vocal professions (p=0.125). CONCLUSION: As a result of the study, a number of risk factors for laryngeal papillomatosis recurrent have been identified, and their study should be continued.


Assuntos
Neoplasias Laríngeas , Papiloma , Humanos , Moscou/epidemiologia , Masculino , Feminino , Papiloma/epidemiologia , Neoplasias Laríngeas/epidemiologia , Neoplasias Laríngeas/patologia , Adulto , Estudos Retrospectivos , Pessoa de Meia-Idade , Fatores de Risco , Incidência , Prevalência , Recidiva Local de Neoplasia/epidemiologia
4.
Oral Oncol ; 158: 107004, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-39163742

RESUMO

Recurrent respiratory papillomatosis is medical condition strictly connected with HPV infection of the epithelium of the upper respiratory track. The main treatment of lesions located in larynx or lower pharynx includes microsurgical excision by using CO2 laser. A thorough preoperative assessment of patients is extremely important, which should not only be based on traditional laryngological examination, but also on endoscopy of the larynx and the use of the NBI (narrow band imaging) technique to assess the vascularization of lesions. In patients with recurrent papillomas, neoadjuvant therapy with antiviral agents or agents that inhibit angiogenesis is also often used. Among our group of 31 patients with laryngeal papillomas, 15 people (48%) required repeated surgical intervention and additional antiviral therapy while 10 (33%) people had to undergo the procedure three or more times due to disease recurrence. In this article we will discuss that laryngeal microsurgery with a CO2 laser is an effective method of treating patients with laryngeal papillomatosis and we will present the possibilities of adjuvant therapy.


Assuntos
Neoplasias Laríngeas , Lasers de Gás , Papiloma , Humanos , Papiloma/cirurgia , Neoplasias Laríngeas/cirurgia , Lasers de Gás/uso terapêutico , Masculino , Feminino , Microcirurgia/métodos , Terapia a Laser/métodos , Adulto , Pessoa de Meia-Idade , Resultado do Tratamento , Infecções por Papillomavirus/cirurgia
7.
Zhonghua Jie He He Hu Xi Za Zhi ; 47(7): 681-686, 2024 Jul 12.
Artigo em Chinês | MEDLINE | ID: mdl-38955756

RESUMO

Respiratory papilloma is a relatively common benign tumor of the respiratory tract, and a few patients may develop malignant changes. The disease has an insidious onset and lacks specific clinical manifestations, and its manifestations are closely related to the growth mode, location and size of the tumor. It can involve multiple parts, such as the larynx, trachea, bronchus, and lung parenchyma, which cause coughing, hoarseness, dysphonia, and, in severe cases, may lead to obstruction of the respiratory tract. At present, the treatment of respiratory papilloma lacks standardization, and there is no effective method to cure the disease. Surgery remains the main treatment for alleviating patients' symptoms and preventing airway obstruction. However, due to the high recurrence rate of respiratory papilloma, multiple surgeries are often needed, which reduces the quality of life of patients and increases their disease burden and economic burden. Bevacizumab, a vascular endothelial growth factor-binding antibody inhibitor, is a promising adjuvant treatment modality that shows good potential for reducing symptoms and the frequency of surgery. This article aimed to review the efficacy and safety of bevacizumab for the treatment of respiratory papilloma and discuss the differences and efficacy of the systemic application and intralesional injection of bevacizumab for the treatment of respiratory papilloma.


Assuntos
Bevacizumab , Humanos , Bevacizumab/uso terapêutico , Bevacizumab/administração & dosagem , Papiloma/tratamento farmacológico , Neoplasias do Sistema Respiratório/tratamento farmacológico , Inibidores da Angiogênese/uso terapêutico , Inibidores da Angiogênese/administração & dosagem
9.
Braz J Otorhinolaryngol ; 90(5): 101449, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38972285

RESUMO

OBJECTIVES: Exophytic Sinonasal Papilloma (ESP) is a benign tumor of the sinonasal tract. Complete surgical excision by endoscopic surgery is the treatment of choice. However, a high recurrence rate (36% at 5-year follow-up) is associated with this method, which may indicate the presence of microorganisms such as Human Papillomavirus (HPV). It is important to note that the standard treatment for ESP does not include antiviral drugs. In our study, we are testing the effectiveness of an interferon-containing drug in reducing recurrence and postoperative reactions in patients with ESP. METHODS: We included 78 patients aged 23-83 years with a confirmed diagnosis of ESP by rhinoscopy and nasal endoscopy and a positive PCR test for HPV in nasal scrapings. To compare the results, we divided the patients into main and control groups. The main group received recombinant human interferon after surgery, while the control group did not receive the drug. We performed a statistical analysis to compare the proportion of patients without reactive manifestations at different stages of the postoperative period, as well as to compare the proportion of patients with recurrent ESP at certain stages of observation. RESULTS: The introduction of recombinant human interferon accelerated the resolution of postoperative reactions and promoted the healing of the nasal mucosa after surgical removal of the ESP. We also found a statistically significant association between treatment with recombinant interferon and a reduction in the recurrence rate of ESP. CONCLUSION: According to the results of the study, it was found that in the main group of patients who received rhIFN-α2b (recombinant human Interferon alpha 2b) in the postoperative period, the frequency of relapses of ESP and the time of postoperative recovery were significantly lower than in patients in the control group who did not take the drug. LEVEL OF EVIDENCE: Cohort Study.


Assuntos
Interferon alfa-2 , Interferon-alfa , Papiloma , Infecções por Papillomavirus , Humanos , Pessoa de Meia-Idade , Adulto , Idoso , Masculino , Feminino , Interferon alfa-2/uso terapêutico , Infecções por Papillomavirus/tratamento farmacológico , Idoso de 80 Anos ou mais , Adulto Jovem , Interferon-alfa/uso terapêutico , Resultado do Tratamento , Papiloma/tratamento farmacológico , Papiloma/cirurgia , Papiloma/virologia , Neoplasias Nasais/cirurgia , Neoplasias Nasais/tratamento farmacológico , Neoplasias Nasais/virologia , Proteínas Recombinantes/uso terapêutico , Recidiva Local de Neoplasia , Antivirais/uso terapêutico
10.
Vet Med Sci ; 10(4): e1516, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39001593

RESUMO

BACKGROUND: Papilloma DNA viruses are one of the viruses that cause skin lesions in ruminants. OBJECTIVES: The clinical, histopathological and molecular characteristics of cutaneous papilloma in ruminants in Iran are to be investigated in this study. METHODS: Samples were collected from 19 small ruminants (5 sheep and 14 goats) with various papillomatosis lesions. The samples taken were studied with histopathological and molecular techniques. RESULTS: In clinical terms, the lesions appeared in different sizes, ranging from 0.5 to 11 cm, and the cauliflower exophytic masses appeared in other parts of the animal's body. In the limbs, most papilloma lesions have been seen (42.1%). In histopathological examination, perinuclear vacuolation epidermal granule layer with various degrees of hypergranulosis, hyperkeratosis, acanthosis, orthokeratosis and parakeratosis were seen. Moreover, all the suspected samples were positive for papillomavirus using the polymerase chain reaction technique. CONCLUSIONS: Although the prevalence of papillomaviruses in Iranian sheep and goats is low, it seems necessary to distinguish them from other viral skin diseases, such as cutaneous contagious ecthyma, using molecular techniques and histopathology.


Assuntos
Doenças das Cabras , Cabras , Papillomaviridae , Infecções por Papillomavirus , Doenças dos Ovinos , Animais , Irã (Geográfico)/epidemiologia , Doenças dos Ovinos/virologia , Doenças dos Ovinos/epidemiologia , Doenças dos Ovinos/patologia , Ovinos , Doenças das Cabras/virologia , Doenças das Cabras/patologia , Doenças das Cabras/epidemiologia , Papillomaviridae/isolamento & purificação , Papillomaviridae/genética , Infecções por Papillomavirus/veterinária , Infecções por Papillomavirus/virologia , Infecções por Papillomavirus/patologia , Infecções por Papillomavirus/epidemiologia , Papiloma/veterinária , Papiloma/virologia , Papiloma/patologia , Papiloma/epidemiologia , Reação em Cadeia da Polimerase/veterinária , Feminino , Prevalência , Masculino , Carneiro Doméstico
11.
Am J Otolaryngol ; 45(5): 104373, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38838480

RESUMO

BACKGROUND: With advancements in medicine and economy, it would be expected that there will be changes in the clinical characteristics of upper respiratory papillomatosis. The aim of this study was to examine the current clinical characteristics of upper respiratory papillomatosis, as there are no recent data in the literature. METHODS: The medical records of 1894 patients with upper respiratory papillomatosis were retrospectively reviewed. Data extracted included clinical features, laryngoscopy images, and surgical procedure data. RESULTS: The upper frequency of upper respiratory papillomatosis in the oropharynx was 69.1 %, and in the larynx was held 28.9 %. The overall postoperative relapse rate was 2.4 %. The relapse rate of laryngeal papillomatosis was 6.5 %. Approximately 2.6 % of cases were in children. All postoperative recurrences in children were laryngeal, and the recurrence rate was 30.4 %. CONCLUSION: The oropharynx has the highest frequency of upper respiratory papillomatosis. The larynx, however, has the highest rate of postoperative recurrence. Compared to adults, children are more likely to experience a postoperative recurrence.


Assuntos
Neoplasias Laríngeas , Humanos , Estudos Retrospectivos , Masculino , Feminino , Criança , Adulto , Pré-Escolar , Pessoa de Meia-Idade , Adolescente , Neoplasias Laríngeas/cirurgia , Neoplasias Laríngeas/patologia , Neoplasias Laríngeas/epidemiologia , Neoplasias Laríngeas/diagnóstico , Idoso , Adulto Jovem , Infecções por Papillomavirus , Laringoscopia , Lactente , Recidiva Local de Neoplasia/epidemiologia , Infecções Respiratórias/epidemiologia , Infecções Respiratórias/virologia , Papiloma/cirurgia , Papiloma/epidemiologia , Papiloma/patologia , Idoso de 80 Anos ou mais
14.
Vestn Otorinolaringol ; 89(2): 66-70, 2024.
Artigo em Russo | MEDLINE | ID: mdl-38805466

RESUMO

The literature review presents current data on the epidemiology, drug, and surgical treatment of laryngeal papillomatosis in adults. Possible prospects for further study of the prevalence and incidence of the disease and provoking factors of recurrence of the disease for the development of possible preventive measures are considered.


Assuntos
Neoplasias Laríngeas , Papiloma , Humanos , Neoplasias Laríngeas/epidemiologia , Neoplasias Laríngeas/cirurgia , Neoplasias Laríngeas/diagnóstico , Papiloma/epidemiologia , Papiloma/cirurgia , Papiloma/diagnóstico , Adulto , Prevalência , Incidência , Laringe/cirurgia , Laringe/patologia
15.
Thorac Cancer ; 15(17): 1385-1389, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38690654

RESUMO

Solitary pulmonary papillomas (SPPs) are rare lung neoplasms. Histologically, SPP is classified into three subtypes, and mixed squamous and glandular papilloma (MP) is the rarest subtype. Although SPPs are considered benign tumors, there have been several reports on the synchronous malignant transformation in SPPs. An 82-year-old asymptomatic man was referred to our hospital for further examination of a 2.2 cm-sized left lung tumor. Pathology of bronchoscopic specimens showed the possibility of pulmonary papilloma but did not reveal any malignancy. The patient complained of bloody sputum during the eighth month after the initial visit. The size of the lesion had increased to 4.3 cm. These data suggested the existence of malignancy, and the patient underwent an operation. Histologically, the tumor was composed of fibrovascular cores and papillomatous fronds lined by pseudostratified columnar cells and mucin-filled goblet cells. Keratinizing squamous epithelium was also observed. Overall, the diagnosis of MP was obtained by fundamental histology. In addition, a solid part beneath mild atypical squamous epithelia, which was composed of malignant-appearing squamous cells and spindle-shaped atypical cells, was observed. The spindle portion was positive for cytokeratin AE1/AE3 and vimentin, and focally positive for alpha-smooth muscle actin (αSMA). The final diagnosis was pulmonary pleomorphic carcinoma (PPC) arising in the MP. Only two cases have been reported for atypical spindle tumor cells that are found in MP or bronchiolar adenoma/ciliated muconodular papillary tumor (BA/CMPT), which has histologically similar features to MP. This is the second case report of PPC arising in MP.


Assuntos
Neoplasias Pulmonares , Papiloma , Humanos , Masculino , Papiloma/patologia , Papiloma/cirurgia , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/cirurgia , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/cirurgia
16.
Clin Nucl Med ; 49(6): e288-e289, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38704655

RESUMO

ABSTRACT: Solitary mixed squamous cell and glandular papilloma of the lung is an extremely rare benign neoplasm. We describe FDG PET/CT findings in a case of solitary mixed squamous cell and glandular papilloma of the lung with high serum carcinoembryonic antigen level (63.3 ng/mL; reference, <5 ng/mL). The tumor showed intense FDG uptake with SUVmax of 23.8 mimicking lung cancer.


Assuntos
Antígeno Carcinoembrionário , Fluordesoxiglucose F18 , Neoplasias Pulmonares , Papiloma , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Humanos , Antígeno Carcinoembrionário/sangue , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/patologia , Papiloma/diagnóstico por imagem , Tomografia Computadorizada por Raios X
17.
JAMA Dermatol ; 160(8): 838-845, 2024 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-38759225

RESUMO

Importance: BRCA1-associated protein (BAP1) tumor predisposition syndrome (TPDS) is a cancer genodermatosis associated with high risk of uveal and cutaneous melanoma, basal cell carcinoma, and multiple internal malignant neoplasms, including mesothelioma and renal cell carcinoma. Early detection of the syndrome is important for cancer surveillance and genetic counseling of family members who are at risk. Objective: To determine the prevalence of nail abnormalities in individuals with pathogenic germline variants in BAP1. Design, Setting, and Participants: In this prospective cohort study, individuals who were known carriers of pathogenic BAP1 germline variants were consecutively enrolled between October 10, 2023, and March 15, 2024. Dermatologic evaluation for nail abnormalities was performed, including a history of nail abnormalities and associated symptoms, physical examination, medical photography, and nail biopsy for histopathology. This was a single-center study conducted at the National Institutes of Health Clinical Center. Main Outcomes and Measures: Primary outcomes were the prevalence and spectrum of nail changes and histopathologic characterization. Results: Among 47 participants (30 female [63.8%]; mean [SD] age, 46.4 [15.1] years) ranging in age from 13 to 72 years from 35 families, nail abnormalities were detected in 41 patients (87.2%) and included leukonychia, splinter hemorrhage, onychoschizia, and distal nail hyperkeratosis. Clinical findings consistent with onychopapilloma were detected in 39 patients (83.0%), including 35 of 40 individuals aged 30 years or older (87.5%). Nail bed biopsy was performed in 5 patients and was consistent with onychopapilloma. Polydactylous involvement with onychopapillomas was detected in nearly all patients who had nail involvement (38 of 39 patients [97.4%]). Conclusions and Relevance: This study found that BAP1 TPDS was associated with a high rate of nail abnormalities consistent with onychopapillomas in adult carriers of the disease. Findings suggest that this novel cutaneous sign may facilitate detection of the syndrome in family members who are at risk and patients with cancers associated with BAP1 given that multiple onychopapillomas are uncommon in the general population and may be a distinct clue to the presence of a pathogenic germline variant in the BAP1 gene.


Assuntos
Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Neoplasias Cutâneas , Proteínas Supressoras de Tumor , Ubiquitina Tiolesterase , Humanos , Ubiquitina Tiolesterase/genética , Feminino , Proteínas Supressoras de Tumor/genética , Masculino , Pessoa de Meia-Idade , Adulto , Estudos Prospectivos , Idoso , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/epidemiologia , Adulto Jovem , Adolescente , Doenças da Unha/genética , Doenças da Unha/patologia , Doenças da Unha/epidemiologia , Doenças da Unha/diagnóstico , Prevalência , Papiloma/patologia , Papiloma/genética , Papiloma/epidemiologia , Papiloma/diagnóstico , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/patologia , Unhas Malformadas/genética , Unhas Malformadas/epidemiologia , Unhas Malformadas/diagnóstico
18.
Swiss Dent J ; 134(1): 105-122, 2024 Feb 19.
Artigo em Alemão | MEDLINE | ID: mdl-38739046

RESUMO

A papilloma is a benign tumor arising from an epithelial surface. Mostly a papilloma appears as an asymptomatic intraoral lesion and is often associated with the human papilloma virus (HPV). In this case report two similar, verrucous papules, sessile bilateral on the back of the tongue, were surgically removed in a 65-year-old male patient. Thereby two different methods of treatment were compared. On the right side of the back of the tongue, excision by scalpel, as the gold standard treatment modality, was performed. On the left side a surgical removal by a CO2 laser was performed. In a photothermal procedure, without direct contact to the tissue, the laser beam is cutting through the mucosa. Secondary wound healing can take place. Both methods were compared in relation to their application, wound healing, quality of the biopsy and morbidity. Postoperative less discomfort and a slightly faster wound healing could be seen after scalpel removal. The histopathological examination was comparable for both methods.


Assuntos
Lasers de Gás , Papiloma , Neoplasias da Língua , Humanos , Masculino , Idoso , Lasers de Gás/uso terapêutico , Neoplasias da Língua/cirurgia , Neoplasias da Língua/patologia , Papiloma/cirurgia , Papiloma/patologia , Terapia a Laser/métodos , Terapia a Laser/instrumentação , Cicatrização/fisiologia
19.
Med Arch ; 78(2): 170-173, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38566878

RESUMO

Background: Juvenile papillomatosis (JP) of the breast is a rare and benign proliferative disorder affecting young women. The affected patients tend to have an increased risk of breast cancer development during follow-up. Objective: This article aims to highlight a rare entity of breast disease, that harbor risk of breast cancer. Case Presentation: Here, we present 2 cases of JP in young females; the first case is a 13 year-old presented with spontaneous nipple discharge, while the other patient is a 24 year-old presented with a right breast lump. Both patients had a total excision of the breast lesions, revealing JP at histology. Discussion: Juvenile Papillomatosis is considered a clinicopathological entity and is usually misdiagnosed as fibroadenoma clinically and radiologically, which requires histological correlation. The histologic findings are well-defined (hyperplasia, papillomatosis, and multiple cysts with foamy histiocytes).The controversy in management between surgery and observation is because of insufficient knowledge about the direct relationship between JP and subsequent cancer. Conclusion: Considering the risk of developing breast cancer in JP, enrolling patients and their families in a close follow-up and surveillance program is crucial.


Assuntos
Neoplasias da Mama , Cistos , Papiloma , Adolescente , Feminino , Humanos , Adulto Jovem , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/cirurgia , Neoplasias da Mama/patologia , Papiloma/diagnóstico , Papiloma/cirurgia , Papiloma/patologia
20.
J Eur Acad Dermatol Venereol ; 38(9): 1818-1827, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38595321

RESUMO

BACKGROUND: Data on dermatological manifestations of Costello syndrome (CS) remain heterogeneous and lack in validated description. OBJECTIVES: To describe the dermatological manifestations of CS; compare them with the literature findings; assess those discriminating CS from other RASopathies, including cardiofaciocutaneous syndrome (CFCS) and the main types of Noonan syndrome (NS); and test for dermatological phenotype-genotype correlations. METHODS: We performed a 10-year, large, prospective, multicentric, collaborative dermatological and genetic study. RESULTS: Thirty-one patients were enrolled. Hair abnormalities were ubiquitous, including wavy or curly hair and excessive eyebrows, respectively in 68% and 56%. Acral excessive skin (AES), papillomas and keratotic papules (PKP), acanthosis nigricans (AN), palmoplantar hyperkeratosis (PPHK) and 'cobblestone' papillomatous papules of the upper lip (CPPUL), were noted respectively in 84%, 61%, 65%, 55% and 32%. Excessive eyebrows, PKP, AN, CCPUL and AES best differentiated CS from CFCS and NS. Multiple melanocytic naevi (>50) may constitute a new marker of attenuated CS associated with intragenic duplication in HRAS. Oral acitretin may be highly beneficial for therapeutic management of PPHK. No significant dermatological phenotype-genotype correlation was determined between patients with and without HRAS c.34G>A (p.G12S). CONCLUSIONS AND RELEVANCE: This validated phenotypic characterization of a large number of patients with CS will allow future researchers to make a positive diagnosis, and to differentiate CS from CFCS and NS.


Assuntos
Síndrome de Costello , Proteínas Proto-Oncogênicas p21(ras) , Humanos , Síndrome de Costello/genética , Síndrome de Costello/complicações , Estudos Prospectivos , Feminino , Masculino , Criança , Proteínas Proto-Oncogênicas p21(ras)/genética , Adolescente , Pré-Escolar , Adulto , Adulto Jovem , Displasia Ectodérmica/genética , Síndrome de Noonan/genética , Síndrome de Noonan/complicações , Acantose Nigricans/genética , Diagnóstico Diferencial , Ceratodermia Palmar e Plantar/genética , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/complicações , Fenótipo , Papiloma/genética , Papiloma/patologia , Acitretina/uso terapêutico , Sobrancelhas/anormalidades , Sobrancelhas/patologia , Insuficiência de Crescimento/genética , Insuficiência de Crescimento/etiologia , Lactente , Ceratolíticos/uso terapêutico , Fácies
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA