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1.
Pediatr Dermatol ; 41(4): 641-645, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38770539

RESUMO

BACKGROUND: Ultraviolet (UV)-exposure behaviors can directly impact an individual's skin cancer risk, with many habits formed during childhood and adolescence. We explored the utility of a photoaging smartphone application to motivate youth to improve sun safety practices. METHODS: Participants completed a preintervention survey to gather baseline sun safety perceptions and behaviors. Participants then used a photoaging mobile application to view the projected effects of chronic UV exposure on participants' self-face image over time, followed by a postintervention survey to assess motivation to engage in future sun safety practices. RESULTS: The study sample included 87 participants (median [interquartile (IQR)] age, 14 [11-16] years). Most participants were White (50.6%) and reported skin type that burns a little and tans easily (42.5%). Preintervention sun exposure behaviors among participants revealed that 33 (37.9%) mostly or always used sunscreen on a sunny day, 48 (55.2%) experienced at least one sunburn over the past year, 26 (30.6%) engaged in outdoor sunbathing at least once during the past year, and zero (0%) used indoor tanning beds. Non-skin of color (18 [41.9%], p = .02) and older (24 [41.4%], p = .007) participants more often agreed they felt better with a tan. Most participants agreed the intervention increased their motivation to practice sun-protective behaviors (wear sunscreen, 74 [85.1%]; wear hats, 64 [74.4%]; avoid indoor tanning, 73 [83.9%]; avoid outdoor tanning, 68 [79%]). CONCLUSION: The findings of this cross-sectional study suggest that a photoaging smartphone application may serve as a useful tool to promote sun safety behaviors from a young age.


Assuntos
Comportamentos Relacionados com a Saúde , Aplicativos Móveis , Smartphone , Queimadura Solar , Humanos , Adolescente , Masculino , Feminino , Criança , Queimadura Solar/prevenção & controle , Protetores Solares/uso terapêutico , Neoplasias Cutâneas/prevenção & controle , Neoplasias Cutâneas/etiologia , Banho de Sol/psicologia , Promoção da Saúde/métodos , Inquéritos e Questionários , Luz Solar/efeitos adversos
2.
J Drugs Dermatol ; 22(5): 457-464, 2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-37133478

RESUMO

BACKGROUND: The standard of care when treating melanoma in situ (MMIS) is an excision with at least 5 mm surgical margins.1 Some studies have suggested up to 9 mm margins to maximize local recurrence-free survival.2 This retrospective review aims to assess the efficacy of imiquimod as a topical treatment for persistently positive MMIS at the margins of prior excisions or where surgery is not an option. METHODS: Retrospective study conducted at Moffitt Cancer Center between 2019 and 2021 with patients aged > 18 years with MMIS at the margins of excision of an invasive melanoma or MMIS. Included patients were not ideal candidates for primary or additional surgical resection due to non-feasibility of surgery because of comorbidity or cosmetically sensitive location and/or the need for repeated skin grafting, or due to patient's refusal. Patients received imiquimod on protocol for 16 weeks and were monitored for treatment response and side effects. Following completion of the treatment, scouting biopsies were performed to assess histological response, and dermoscopy was used to determine the clinical disease status. RESULTS: Ten patients completed 16 weeks of imiquimod. Seven (75%) had a median of 2 surgical resections, and 3 refused surgery despite discussion that surgery was standard of care. Seven were deemed free of disease on post-imiquimod treatment scouting biopsies, while 2 were found to be clinically free of disease following confocal microscopy, indicating a tumor clearance rate of 90% with imiquimod treatment. One patient was found to have persistent residual disease following 2 rounds of imiquimod and was taken for an additional surgical excision after which they were deemed free of disease. Median follow-up duration from the onset of imiquimod therapy to the last clinic visit was 18 months, without any recurrences to date. CONCLUSION: Imiquimod appears to demonstrate an encouraging tumor clearance among patients with persistent MMIS after surgery where further surgical resection may not be feasible. Although long-term durability has not been demonstrated in this study, a 90% tumor clearance rate is promising. J Drugs Dermatol. 2023;22(5): doi:10.36849/JDD.6987.


Assuntos
Antineoplásicos , Melanoma , Neoplasias Cutâneas , Humanos , Imiquimode/efeitos adversos , Antineoplásicos/efeitos adversos , Estudos Retrospectivos , Melanoma/tratamento farmacológico , Melanoma/cirurgia , Melanoma/patologia , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/cirurgia , Neoplasias Cutâneas/patologia , Aminoquinolinas/efeitos adversos , Resultado do Tratamento , Melanoma Maligno Cutâneo
3.
Dermatol Ther ; 35(5): e15418, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35243730

RESUMO

Mycosis fungoides (MF) is a rare subtype of non-Hodgkin lymphoma, for which no standard treatment exists. The objective of this study is to provide evidence-based recommendations for adult patients with early-stage MF treated with oral bexarotene and phototherapy. A systematic review and meta-analysis was conducted utilizing studies identified via Embase, Pubmed, Web of Science, and the Cochrane Library from inception to April 2020 to evaluate the clinical efficacy and adverse events of oral bexarotene and phototherapy. Of 645 abstracts retrieved, 17 full-text articles with 143 subjects were included for analysis. There were nine case reports, five retrospective cohort studies, two prospective cohort studies, and one randomized controlled trial. Most subjects were men (24.48%) with stage IB disease (54.4%), and the mean age at presentation was 63. One patient had folliculotropic disease. The retrospective studies' analysis included 67 subjects and indicated that the partial response was 40.36% (95% CI 18.24-64.92), complete response was 34.06% (95% CI 10.73-62.56), and overall response was 64.48% (95% CI 48.56-78.89). Side effects from bexarotene were hypertriglyceridemia (54%), hypothyroidism (50%), and hypercholesterolemia (46%). Similar results were noted in the prospective studies. The literature consists mostly of uncontrolled studies, which suggest that combination therapy with oral bexarotene and phototherapy is a therapeutic option. Future randomized control studies with longer follow-up and standardized definitions of treatment responses and dosages are needed to support the development of evidence-based approaches for the treatment of early-stage MF.


Assuntos
Micose Fungoide , Neoplasias Cutâneas , Adulto , Bexaroteno/efeitos adversos , Feminino , Humanos , Masculino , Micose Fungoide/tratamento farmacológico , Micose Fungoide/patologia , Fototerapia/efeitos adversos , Fototerapia/métodos , Estudos Prospectivos , Estudos Retrospectivos , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/patologia , Resultado do Tratamento
4.
Clin Exp Dermatol ; 47(5): 991-994, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35233799

RESUMO

A middle-aged man presented to a cancer centre with a painful, ulcerating plaque of the lower lip, which had been diagnosed as squamous cell carcinoma. Computed tomography revealed increased focal metabolic activity in the lip, and histology revealed spirochaetes.


Assuntos
Carcinoma de Células Escamosas , Neoplasias Labiais , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patologia , Humanos , Lábio/patologia , Neoplasias Labiais/patologia , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Úlcera/patologia
5.
J Am Acad Dermatol ; 84(6): 1547-1553, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32389716

RESUMO

BACKGROUND: Patient outcomes are improved when dermatologists provide inpatient consultations. Inpatient access to dermatologists is limited, illustrating an opportunity to use teledermatology. Little is known about the ability of dermatologists to accurately diagnose disease and manage inpatients with teledermatology, particularly when using nondermatologist-generated clinical data. METHODS: This prospective study assessed the ability of teledermatology to diagnose disease and manage 41 dermatology consultations from a large urban tertiary care center, using internal medicine referral documentation and photographs. Twenty-seven dermatology hospitalists were surveyed. Interrater agreement was assessed by the κ statistic. RESULTS: There was substantial agreement between in-person and teledermatology assessment of the diagnosis with differential diagnosis (median κ = 0.83), substantial agreement in laboratory evaluation decisions (median κ = 0.67), almost perfect agreement in imaging decisions (median κ = 1.0), and moderate agreement in biopsy decisions (median κ = 0.43). There was almost perfect agreement in treatment (median κ = 1.0), but no agreement in follow-up planning (median κ = 0.0). There was no association between raw photograph quality and the primary plus differential diagnosis or primary diagnosis alone. LIMITATIONS: Selection bias and single-center nature. CONCLUSIONS: Teledermatology may be effective in the inpatient setting, with concordant diagnosis, evaluation, and management decisions.


Assuntos
Dermatologia/métodos , Hospitalização , Consulta Remota/métodos , Dermatopatias/diagnóstico , Adulto , Idoso , Estudos de Viabilidade , Feminino , Médicos Hospitalares/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Fotografação , Estudos Prospectivos , Pele/diagnóstico por imagem , Inquéritos e Questionários/estatística & dados numéricos , Centros de Atenção Terciária
6.
J Cutan Pathol ; 48(4): 567-571, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32885480

RESUMO

Patients with primary immunodeficiency are at increased risk for malignancy, especially hematologic neoplasms. This paper reports a unique case of a 47-year-old man with X-linked agammaglobulinemia who presented with progressive asymptomatic violaceous papules and plaques on his face, hands, and trunk for 1 year. Skin biopsies revealed deep, nodular infiltrates of histiocytes and CD8-positive lymphocytes, with a CD4:CD8 ratio of 1:10. Laboratory studies showed cytopenias. Flow cytometry in the skin, blood, and bone marrow (BM) showed a CD3+/CD8+/CD57+ large granular lymphocyte population. BM biopsy showed 30% involvement with these atypical T-cells. T-cell gene rearrangement studies of skin, blood, and BM revealed identical T-cell clones. He was diagnosed with T-large granular lymphocyte leukemia (T-LGLL) with an associated CD8+ cutaneous lymphoproliferation. Skin involvement was suspected to represent infiltration by T-LGLL. However, co-existence of two lymphoproliferative disorders (LPDs), T-LGLL and CD8+ granulomatous LPD, remains a possibility. In general, cutaneous infiltrates associated with LGLL are rare and poorly understood. It has been suggested that they are markers of poor prognosis. Our case report describes skin, blood, and BM findings in an immunosuppressed patient with T-LGLL in detail. These findings have not yet been reported and their significance requires further investigation.


Assuntos
Agamaglobulinemia/genética , Linfócitos T CD8-Positivos/patologia , Doenças Genéticas Ligadas ao Cromossomo X/genética , Leucemia Linfocítica Granular Grande/genética , Leucemia Linfocítica Granular Grande/patologia , Adjuvantes Imunológicos/administração & dosagem , Adjuvantes Imunológicos/uso terapêutico , Agamaglobulinemia/complicações , Agamaglobulinemia/diagnóstico , Agamaglobulinemia/patologia , Biópsia , Medula Óssea/patologia , Linfócitos T CD8-Positivos/imunologia , Fármacos Dermatológicos/administração & dosagem , Fármacos Dermatológicos/uso terapêutico , Diagnóstico Diferencial , Quimioterapia Combinada , Rearranjo Gênico do Linfócito T , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Histiócitos/patologia , Humanos , Imiquimode/administração & dosagem , Imiquimode/uso terapêutico , Terapia de Imunossupressão/efeitos adversos , Leucemia Linfocítica Granular Grande/complicações , Leucemia Linfocítica Granular Grande/tratamento farmacológico , Masculino , Metotrexato/administração & dosagem , Metotrexato/uso terapêutico , Pessoa de Meia-Idade , Pele/patologia , Resultado do Tratamento
7.
Dermatol Ther ; 34(2): e14736, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33394563

RESUMO

Pyoderma gangrenosum (PG) lacks consensus regarding treatment, and no prior studies assess treatment satisfaction in PG. The objective of this study was to determine patient-reported satisfaction in the treatment of PG, and associations with satisfaction. Methodology was a multicenter cross-sectional survey for patients who received systemic medication(s) to treat PG. Thirty-five patients completed the survey (mean age: 54.0 years, 65.7% female, response rate: 81.4%). Mean (± SD) SATMED-Q score was 75.0 (±16.2, range: 67.6-85.3). Older patients (72.6 ± 23.6 for 18-39 years, 74.4 ± 16.1 for 40-59, 77.1 ± 11.6 for 60+), plus those with higher incomes (72.9 ± 20.3 for $0-49 000; 74.0 ± 17.6 for $50 000-99 000; 79.0 ± 14.6 for $100 000+) and education status (69.4 ± 14.3 for high school equivalent, 72.9 ± 15.9 for undergraduate, 91.7 ± 10.6 for graduate), were more satisfied with treatment. Ulcerative PG had higher SATMED-Q scores (79.0 ± 13.2) than other subtypes (66.2 ± 19.3). For local therapy, wound care, or pain control, 63.2%, 100%, and 75% were satisfied, respectively. The mean DLQI was 8.6 (±7.6, range: 0-29), and higher DLQI was associated with decreased satisfaction. Satisfaction with providers was positively correlated with global satisfaction (Pearson's r = 0.638). The presence of pain and/or depression influenced both SATMED-Q (72.8 ± 18.8 with pain, 78.3 ± 11.2 without; 68.2 ± 18.8 with depression, 80.1 ± 12.2 without) and DLQI scores (12.1 ± 8.1 with pain, 3.9 ± 3.4 without; 10.3 ± 7.1 with depression, 7.4 ± 8.0 without). To optimize the patient experience, non-modifiable associations should be individually considered, and potentially modifiable associations such as satisfaction with specific providers, pain, and depression, may be targeted for management.


Assuntos
Pioderma Gangrenoso , Qualidade de Vida , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação Pessoal , Pioderma Gangrenoso/diagnóstico , Pioderma Gangrenoso/tratamento farmacológico , Inquéritos e Questionários
8.
Australas J Dermatol ; 62(2): e280-e282, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33386610

RESUMO

The development of pustular cutaneous T-cell lymphoma (CTCL) on the palms and soles is rare. Without confirmatory biopsy and molecular studies, CTCL can be misdiagnosed as many benign inflammatory skin diseases. We present a case of cutaneous T-cell lymphoma (CTCL) that mimicked palmoplantar pustular psoriasis, a rarely reported manifestation of the disease. We stress the importance of biopsy to confirm diagnoses, especially when preliminary diagnoses do not respond to empiric treatment.


Assuntos
Mãos/patologia , Micose Fungoide/diagnóstico , Neoplasias Cutâneas/diagnóstico , Idoso , Diagnóstico Diferencial , Humanos , Masculino , Psoríase/diagnóstico
9.
Dermatol Online J ; 27(3)2021 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-33865275

RESUMO

One of the many consequences of the COVID-19 pandemic was the cancelation of the 2020 American Academy of Dermatology Annual Meeting. This conference historically features lectures from world-renowned experts in all areas of dermatology, thus providing an important educational experience for dermatology residents. We hypothesized that the cancellation of this meeting produced a substantial educational loss for dermatology residents. To mitigate this impact, we developed a virtual faculty exchange program and surveyed dermatology residents' perspectives on its implementation. All participating residents found the virtual faculty exchange useful and would recommend it to other residents/programs. Moreover, all residents wanted to participate in more faculty exchange sessions as well as incorporate them throughout the academic year. Additionally, this educational program eliminated the potential cost of >$15,000 in flights and >24 metric tons of carbon emissions. This virtual faculty exchange program is a viable tool to enhance dermatology resident education in the COVID-19 era.


Assuntos
Congressos como Assunto , Dermatologia/educação , Docentes de Medicina , Internato e Residência , Comunicação por Videoconferência , Atitude do Pessoal de Saúde , COVID-19 , Humanos , Pandemias
10.
J Am Acad Dermatol ; 82(6): 1553-1567, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32151629

RESUMO

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening conditions with high morbidity and mortality. Supportive care management of SJS/TEN is highly variable. A systematic review of the literature was performed by dermatologists, ophthalmologists, intensivists, and gynecologists with expertise in SJS/TEN to generate statements for supportive care guideline development. Members of the Society of Dermatology Hospitalists with expertise in SJS/TEN were invited to participate in a modified, online Delphi-consensus. Participants were administered 9-point Likert scale questionnaires regarding 135 statements. The RAND/UCLA Appropriateness Method was used to evaluate and select proposed statements for guideline inclusion; statements with median ratings of 6.5 to 9 and a disagreement index of ≤1 were included in the guideline. For the final round, the guidelines were appraised by all of the participants. Included are an evidence-based discussion and recommendations for hospital setting and care team, wound care, ocular care, oral care, urogenital care, pain management, infection surveillance, fluid and electrolyte management, nutrition and stress ulcer prophylaxis, airway management, and anticoagulation in adult patients with SJS/TEN.


Assuntos
Síndrome de Stevens-Johnson/terapia , Adulto , Humanos
11.
J Cutan Pathol ; 47(4): 390-393, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31677178

RESUMO

Combination therapy with ipilimumab and nivolumab is an adjuvant treatment approach for metastatic melanoma that boasts increased 3-year survival when compared with a single immunotherapy agent. Combination therapy, however, is associated with increased toxicities, especially cutaneous side-effects. Here we present a patient with metastatic melanoma and a sudden eruption of painful nodules on the face and arms 10 days after the administration of the fourth dose of combination ipilimumab/nivolumab. Biopsies demonstrated lymphoid hyperplasia, not clinically or pathologically consistent with an infectious, malignant or autoimmune etiology; a diagnosis of pseudolymphoma secondary to ipilimumab/nivolumab was made. After a steroid taper, the lesions resolved, and the patient was restarted on nivolumab monotherapy 2 weeks later without recurrence of symptoms or disease.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Melanoma , Segunda Neoplasia Primária , Pseudolinfoma , Neoplasias Cutâneas , Esteroides/administração & dosagem , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Humanos , Ipilimumab/administração & dosagem , Ipilimumab/efeitos adversos , Masculino , Melanoma/tratamento farmacológico , Melanoma/metabolismo , Melanoma/patologia , Segunda Neoplasia Primária/tratamento farmacológico , Segunda Neoplasia Primária/metabolismo , Segunda Neoplasia Primária/patologia , Nivolumabe/administração & dosagem , Nivolumabe/efeitos adversos , Pseudolinfoma/induzido quimicamente , Pseudolinfoma/tratamento farmacológico , Pseudolinfoma/metabolismo , Pseudolinfoma/patologia , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Melanoma Maligno Cutâneo
12.
Pediatr Dermatol ; 37(1): 124-129, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31691347

RESUMO

BACKGROUND: Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe adverse drug reaction including integumentary and internal organs. An extensive literature review of DRESS in the pediatric population has not been performed. METHODS: A literature search was performed to find reports of pediatric DRESS published between 1997 and March 2019. If not already included, each case was scored based on RegiSCAR criteria. Only "probable" or "definite" cases of DRESS were included in the analysis, totaling 130 cases. RESULTS: In the pediatric population, the average age of diagnosis for DRESS was 8.7 years old. The most common causative drugs include antiepileptics (50%) and antibiotics (30.8%). Time from drug exposure to DRESS presentation averaged 23.8 days. Common clinical symptoms include rash (99.2%) (typically morbilliform (89.2%)), fever (96.2%), eosinophilia (90%), and lymphadenopathy (74.6%). Human herpesvirus-6 reactivation was observed in 16.1% of cases. The most commonly affected internal organ was the liver (80%), followed by the spleen (21.5%) and kidney (15.4%). Management strategies involved, either alone or in combination, included corticosteroids (intravenous 60.8% and oral 41.5%), intravenous immunoglobulins (12.3%), plasmapheresis (2.3%), and ganciclovir (1.5%). Long-term sequelae occurred in 10.8% of patients, most commonly hypothyroidism (3.8%), liver failure (3.1%), and diabetes (2.3%). The mortality rate was 5.4%. CONCLUSION: This literature review highlights the presentation and course of pediatric DRESS. Morbilliform eruption, fever, and eosinophilia appear to be clinical hallmarks of pediatric DRESS. Common causative agents, specifically carbamazepine, are comparable to the adult population. Furthermore, the mortality rate from DRESS is significant and is similar between pediatric and adult patients.


Assuntos
Síndrome de Hipersensibilidade a Medicamentos/diagnóstico , Criança , Humanos , Fatores de Risco
13.
J Am Acad Dermatol ; 81(3): 749-757, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31150704

RESUMO

BACKGROUND: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening conditions that may present with similar findings to other severe dermatologic diseases. OBJECTIVE: The primary objective of this exploratory study was to explore factors associated with SJS/TEN and develop a model that provides the predicted probability of SJS/TEN for patients for whom the diagnosis of SJS/TEN is considered. METHODS: Retrospective review of consultations for patients with suspected SJS, TEN, or overlap at 4 academic dermatology consultation services. RESULTS: Overall, 208 patients were included; 59 (28.4%) had a final diagnosis of SJS/TEN, and 149 (71.6%) were given a different diagnosis. The most common mimickers were drug hypersensitivity syndrome (n = 21, 10.1%), morbilliform drug eruption (n = 18, 8.7%), erythema multiforme (n = 15, 7.2%), and acute generalized exanthematous pustulosis (n = 13, 6.2%). Nikolsky sign, atypical targets, fever, and lymphopenia were included in a model for predicting the probability of SJS/TEN. LIMITATIONS: All cases were obtained from academic centers, which may limit the generalization of findings to community-based settings. This was an exploratory study with a small number of cases, and external validation of the model performance is needed. CONCLUSION: Early dermatologic evaluation of patients with suspected SJS/TEN is key to separating patients with this condition from those who ultimately receive diagnoses of other serious skin diseases.


Assuntos
Modelos Biológicos , Encaminhamento e Consulta , Síndrome de Stevens-Johnson/diagnóstico , Adulto , Idoso , Diagnóstico Diferencial , Feminino , Hospitalização , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Medição de Risco/métodos
14.
J Am Acad Dermatol ; 80(3): 617-625, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30287322

RESUMO

BACKGROUND: Infant death in keratitis-ichthyosis-deafness (KID) syndrome is recognized; its association with specific genotypes and pathophysiology is inadequately understood. OBJECTIVE: We sought to discover characteristics that account for poor outcomes in lethal KID syndrome. METHODS: We collected 4 new cases and 9 previously reported, genotyped cases of lethal KID syndrome. We performed new molecular modeling of the lethal mutants GJB2 p.A88V and GJB2 p.G45E. RESULTS: Infant death occurred in all patients with GJB2 p.G45E and p.A88V; it is unusual with other GJB2 mutations. Early death with those 2 "lethal" mutations is likely multifactorial: during life all had ≥1 serious infection; most had poor weight gain and severe respiratory difficulties; many had additional anatomic abnormalities. Structural modeling of GJB2 p.G45E identified no impact on the salt bridge previously predicted to account for abnormal central carbon dioxide sensing of GJB2 p.A88V. LIMITATIONS: This clinical review was retrospective. CONCLUSION: GJB2 p.G45E and p.A88V are the only KID syndrome mutations associated with uniform early lethality. Those electrophysiologically severe mutations in GJB2 reveal abnormalities in many organs in lethal KID syndrome. All patients with KID syndrome may have subtle abnormalities beyond the eyes, ears, and skin. Early genotyping of KID syndrome births will inform prognostic discussion.


Assuntos
Anormalidades Congênitas/genética , Conexinas/genética , Surdez/genética , Surdez/fisiopatologia , Insuficiência de Crescimento/genética , Ictiose/genética , Ictiose/fisiopatologia , Ceratite/genética , Ceratite/fisiopatologia , Fístula do Sistema Respiratório/genética , Peso Corporal/genética , Conexina 26 , Conexinas/química , Surdez/patologia , Feminino , Genótipo , Humanos , Ictiose/patologia , Lactente , Morte do Lactente , Recém-Nascido , Ceratite/patologia , Masculino , Modelos Moleculares , Estrutura Molecular , Mutação
15.
Int Wound J ; 16(6): 1440-1444, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31475449

RESUMO

Accurate and prompt diagnosis of skin ulcers is critical to optimise management; however, studies in hospitalised patients are limited. This retrospective review of dermatologic consultations included 272 inpatients with skin ulcers between July 2015 and July 2018 in four U.S. academic hospitals. The median age was 54 years and 45% were male. In 49.3% of the patients, skin ulcers were considered the primary reason for admission. Ulcers of 62% were chronic and 49.6% were located on the lower extremities. Pyoderma gangrenosum (17.3%), infection (12.5%), and exogenous causes (11.8%) were the leading aetiologies; 12% remained diagnostically inconclusive after consultation. Diagnostic agreements pre-dermatology and post-dermatology consult ranged from 0.104 (n = 77, 95% CI 0.051-0.194) to 0.553 (n = 76, 95% CI 0.440-0.659), indicating poor-modest agreement. This study highlights the diagnostic complexity and relative incidences of skin ulcers in the inpatient setting.


Assuntos
Úlcera Cutânea/epidemiologia , Úlcera Cutânea/etiologia , Adulto , Biópsia/estatística & dados numéricos , Dermatologia , Feminino , Hospitalização , Hospitais Universitários , Humanos , Masculino , Pessoa de Meia-Idade , Pioderma Gangrenoso/diagnóstico , Pioderma Gangrenoso/epidemiologia , Encaminhamento e Consulta , Estudos Retrospectivos , Dermatopatias Infecciosas/diagnóstico , Dermatopatias Infecciosas/epidemiologia , Estados Unidos/epidemiologia
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