Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 1.838
Filtrar
4.
BMJ ; 369: m1041, 2020 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-32457042

RESUMO

Lyme borreliosis is the most common vectorborne disease in the northern hemisphere. It usually begins with erythema migrans; early disseminated infection particularly causes multiple erythema migrans or neurologic disease, and late manifestations predominantly include arthritis in North America, and acrodermatitis chronica atrophicans (ACA) in Europe. Diagnosis of Lyme borreliosis is based on characteristic clinical signs and symptoms, complemented by serological confirmation of infection once an antibody response has been mounted. Manifestations usually respond to appropriate antibiotic regimens, but the disease can be followed by sequelae, such as immune arthritis or residual damage to affected tissues. A subset of individuals reports persistent symptoms, including fatigue, pain, arthralgia, and neurocognitive symptoms, which in some people are severe enough to fulfil the criteria for post-treatment Lyme disease syndrome. The reported prevalence of such persistent symptoms following antimicrobial treatment varies considerably, and its pathophysiology is unclear. Persistent active infection in humans has not been identified as a cause of this syndrome, and randomized treatment trials have invariably failed to show any benefit of prolonged antibiotic treatment. For prevention of Lyme borreliosis, post-exposure prophylaxis may be indicated in specific cases, and novel vaccine strategies are under development.


Assuntos
Antibacterianos/uso terapêutico , Doença de Lyme/tratamento farmacológico , Doença de Lyme/patologia , Acrodermatite/etiologia , Acrodermatite/patologia , Antibacterianos/administração & dosagem , Artrite/diagnóstico , Artrite/etiologia , Artrite/microbiologia , Grupo Borrelia Burgdorferi/genética , Eritema Migrans Crônico/etiologia , Eritema Migrans Crônico/microbiologia , Eritema Migrans Crônico/patologia , Europa (Continente)/epidemiologia , Feminino , Humanos , Doença de Lyme/sangue , Doença de Lyme/epidemiologia , Masculino , América do Norte/epidemiologia , Síndrome Pós-Lyme/epidemiologia , Prevalência
6.
Internist (Berl) ; 61(6): 617-620, 2020 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-32342114

RESUMO

The case of a 72-year-old female patient with exanthem and concomitant neuropathy of the instep of the foot and progressive ipsilateral lower leg pain is reported. Sonographically, a superficial vein thrombosis with extension into the deep venous system originating from the exanthem was observed. On the basis of the clinical picture as well as the serological and electrophysiological findings, a rare diagnosis of acrodermatitis chronica atrophicans with peripheral neuropathy was made, which could significantly promote the local development of venous thrombosis.


Assuntos
Acrodermatite/diagnóstico , Exantema/complicações , Doença de Lyme/complicações , Trombose Venosa/complicações , Acrodermatite/etiologia , Idoso , Feminino , Humanos , Hiperalgesia , Doença de Lyme/diagnóstico , Neuralgia/complicações , Dor , Tromboflebite/diagnóstico
8.
BMC Pediatr ; 20(1): 34, 2020 01 27.
Artigo em Inglês | MEDLINE | ID: mdl-31987033

RESUMO

BACKGROUND: Acrodermatitis enteropathica (AE) is a rare autosomal recessive hereditary skin disease caused by mutations in the SLC39A4 gene and is characterized by periorificial dermatitis, alopecia and diarrhoea due to insufficient zinc absorption. Only one of the three known sets of twins with AE has genetic information. This case reports the discovery of new mutation sites in rare twin patients and draws some interesting conclusions by analysing the relationship between genetic information and clinical manifestations. CASE PRESENTATION: Here, we report a pair of 16-month-old twin boys with AE exhibiting periorificial and acral erythema, scales and blisters, while subsequent laboratory examination showed normal plasma zinc and alkaline phosphatase levels. Further Sanger sequencing demonstrated that the patients were compound heterozygous for two unreported SLC39A4 mutations: a missense mutation in exon 5 (c.926G > T), which led to a substitution of the 309th amino acid residue cysteine with phenylalanine, a splice site mutation occurring in the consensus donor site of intron 5 (c.976 + 2 T > A). A family study revealed that the boys' parents were heterozygous carriers of these two mutations. CONCLUSION: We identified a new compound heterozygous mutation in Chinese twins with AE, which consisted of two previous unreported variants in exon 5 and intron 5 of SLC39A4. We propose an up-to-date review that different mutations in SLC39A4 may exhibit different AE manifestations. In conjunction with future research, our work may shed light on genotype-phenotype correlations in AE patients and provide knowledge for genetic counselling and treatment for AE patients.


Assuntos
Acrodermatite/genética , Proteínas de Transporte de Cátions/genética , Doenças em Gêmeos/genética , Mutação , Zinco/deficiência , Acrodermatite/tratamento farmacológico , Feminino , Heterozigoto , Humanos , Lactente , Masculino , Linhagem , Zinco/uso terapêutico
9.
Rev Med Suisse ; 15(672): 2125-2130, 2019 Nov 20.
Artigo em Francês | MEDLINE | ID: mdl-31746568

RESUMO

In elderly or chronically ill patients, nutritional deficiencies are common and the presence of related skin lesions is not unusual. Recognition of such cutaneous involvement is important regarding the diagnosis essentially based on clinical elements. By using some clinical case reports, we will describe several pathologies related to nutritional deficiencies like scurvy, pellagra and acquired acrodermatitis enteropathica.


Assuntos
Desnutrição/complicações , Desnutrição/patologia , Dermatopatias/etiologia , Dermatopatias/patologia , Acrodermatite/etiologia , Acrodermatite/patologia , Doença Crônica , Humanos , Pelagra/etiologia , Pelagra/patologia , Escorbuto/etiologia , Escorbuto/patologia , Dermatopatias/diagnóstico
10.
J Drugs Dermatol ; 18(10): 1047, 2019 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-31603633

RESUMO

To the Editor: Acrodermatitis continua of Hallopeau (ACH) is a relatively rare chronic disorder with clinical findings of pustules and erythematous plaques on the digits.1 Although it is a variant of pustular psoriasis, it can be resistant to multiple lines of therapy. We describe for the first time a patient with recalcitrant ACH successfully treated with brodalumab, an interleukin-17 receptor A (IL-17RA) blocking antibody.


Assuntos
Acrodermatite/tratamento farmacológico , Anticorpos Monoclonais/administração & dosagem , Fármacos Dermatológicos/administração & dosagem , Acrodermatite/imunologia , Anticorpos Monoclonais Humanizados , Esquema de Medicação , Resistência a Medicamentos , Dedos , Humanos , Masculino , Pessoa de Meia-Idade , Receptores de Interleucina-17/antagonistas & inibidores , Receptores de Interleucina-17/imunologia , Resultado do Tratamento
11.
Cutis ; 103(6): 336-339, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31348448

RESUMO

Acroangiodermatitis (AAD), also known as pseudo-Kaposi sarcoma, is a rare benign vascular proliferation mainly of the extremities. It is characterized by violaceous patches or plaques resembling Kaposi sarcoma. The term pseudo-Kaposi sarcoma encompasses 2 variants of acroangiodermatitis: Mali type and Stewart-Bluefarb syndrome (SBS). Mali-type AAD is more common and is associated with chronic venous hypertension, while SBS is more rare and is associated with arteriovenous malformations and iatrogenic arteriovenous fistulae. We report 2 patients, representing each type of AAD.


Assuntos
Acrodermatite/diagnóstico , Fístula Arteriovenosa/diagnóstico , Malformações Arteriovenosas/diagnóstico , Dermatopatias Vasculares/diagnóstico , Acrodermatite/patologia , Idoso , Fístula Arteriovenosa/patologia , Malformações Arteriovenosas/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Sarcoma de Kaposi/diagnóstico , Sarcoma de Kaposi/patologia , Dermatopatias Vasculares/patologia , Síndrome
12.
Bol Med Hosp Infant Mex ; 76(4): 198-202, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31303653

RESUMO

Background: Crusted scabies (CS) is an uncommon, highly contagious, variant of classic scabies. Elevated concentrations of the mite Sarcoptes scabiei var. hominis are found in the skin lesions, which lead to a more exaggerated clinical picture than in classic scabies. This disease is mainly observed in patients with any kind of immunosuppression and relates to Down syndrome. Case report: A pediatric female patient with Down syndrome, who presented a crusty white plaque associated with nail dystrophy and subungual hyperkeratosis affecting the distal portion of the fingers is described. Because of these findings, the diagnosis of acrodermatitis continua of Hallopeau was considered. A punch biopsy was performed, attaining the diagnosis of CS. She received systemic treatment with oral ivermectin, topical treatment with emollient cream and desonide 0.1%. Notorious clinical improvement was observed two weeks after finalizing treatment. Conclusions: CS is variant of scabies prevalent in immunocompromised patients and Down syndrome that can be easily confused with inflammatory pathologies with abnormal epidermal keratinization. This case is considered as an atypical presentation of the disease because of local affection of the fingers and nail dystrophy. The histopathological study was necessary to obtain the diagnosis and rule out differential diagnosis.


Assuntos
Acrodermatite/diagnóstico , Síndrome de Down/complicações , Escabiose/diagnóstico , Acrodermatite/patologia , Animais , Anti-Inflamatórios/administração & dosagem , Antiparasitários/administração & dosagem , Criança , Desonida/administração & dosagem , Diagnóstico Diferencial , Feminino , Humanos , Ivermectina/administração & dosagem , Sarcoptes scabiei , Escabiose/tratamento farmacológico , Escabiose/patologia
14.
Indian J Pediatr ; 86(10): 892-896, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31222555

RESUMO

OBJECTIVE: To study the clinical profile and outcome of children with Inborn errors of metabolism. METHODS: Thirty one newly diagnosed children with Inborn errors of metabolism over a 1 y period were studied for their relevant clinical, biochemical, diagnosis, treatment and follow-up details. RESULTS: Inborn errors of metabolism accounted for 2% of hospital admissions. Sixty five percent were born to parents of consanguineous marriage. Of the 31 children with Inborn errors of metabolism, 16 (51%) had lysosomal storage disorders, 8 (26%) had disorders of amino acid metabolism, 2 (6%) each had disorders of carbohydrate and bile acid metabolism, 1 (3%) each had disorders of fatty acid oxidation, mitochondrial and peroxisome metabolism. Acrodermatitis dysmetabolica, as a complication was observed in one child and the overall mortality rate in this series was 10%. CONCLUSIONS: Lysosomal storage disorders constituted the majority of Inborn errors of metabolism in this series and amino acidopathies/organic acidemias were successfully treated with special formulas.


Assuntos
Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/fisiopatologia , Acrodermatite , Adolescente , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/epidemiologia , Criança , Pré-Escolar , Consanguinidade , Feminino , Humanos , Índia/epidemiologia , Lactente , Recém-Nascido , Doenças por Armazenamento dos Lisossomos/diagnóstico , Doenças por Armazenamento dos Lisossomos/epidemiologia , Masculino , Erros Inatos do Metabolismo/epidemiologia , Mortalidade , Estudos Prospectivos
15.
Clin Dermatol ; 37(3): 213-226, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31178104

RESUMO

Viral exanthems are frequent in children and are mostly self-limited. Early recognition and differentiation from other childhood illnesses are important to direct further investigations and treatment initiation. The clinical presentation of viral exanthems in children includes a polymorphic spectrum of skin eruptions ranging from classic viral exanthems to "atypical" presentations that can mimic nonviral diseases; thus, viral exanthems of childhood can be readily diagnosed on clinical grounds, but not rarely do they represent a diagnostic challenge. In this review, we focus on viral diseases in children that may be difficult to diagnose due to their clinical similarities with nonviral diseases, and we offer clues for the differential diagnosis and proper diagnostic testing in such cases.


Assuntos
Exantema/diagnóstico , Exantema/virologia , Pele/virologia , Acrodermatite , Angiomatose , Febre de Chikungunya , Criança , Pré-Escolar , Técnicas de Laboratório Clínico , Dengue , Diagnóstico Diferencial , Exantema/patologia , Feminino , Doença de Mão, Pé e Boca , Herpesvirus Humano 4 , Humanos , Hospedeiro Imunocomprometido , Lactente , Masculino , Testes Sorológicos , Pele/patologia , Zika virus
17.
Biochem J ; 476(12): 1791-1803, 2019 06 28.
Artigo em Inglês | MEDLINE | ID: mdl-31164399

RESUMO

The Zrt-/Irt-like protein (ZIP) family mediates zinc influx from extracellular space or intracellular vesicles/organelles, playing a central role in systemic and cellular zinc homeostasis. Out of the 14 family members encoded in human genome, ZIP4 is exclusively responsible for zinc uptake from dietary food and dysfunctional mutations of ZIP4 cause a life-threatening genetic disorder, Acrodermatitis Enteropathica (AE). About half of the missense AE-causing mutations occur within the large N-terminal extracellular domain (ECD), and our previous study has shown that ZIP4-ECD is crucial for optimal zinc uptake but the underlying mechanism has not been clarified. In this work, we examined zinc binding to the isolated ZIP4-ECD from Pteropus Alecto (black fruit bat) and located zinc-binding sites with a low micromolar affinity within a histidine-rich loop ubiquitously present in ZIP4 proteins. Zinc binding to this protease-susceptible loop induces a small and highly localized structural perturbation. Mutagenesis and functional study on human ZIP4 by using an improved cell-based zinc uptake assay indicated that the histidine residues within this loop are not involved in preselection of metal substrate but play a role in promoting zinc transport. The possible function of the histidine-rich loop as a metal chaperone facilitating zinc binding to the transport site and/or a zinc sensor allosterically regulating the transport machinery was discussed. This work helps to establish the structure/function relationship of ZIP4 and also sheds light on other metal transporters and metalloproteins with clustered histidine residues.


Assuntos
Acrodermatite/metabolismo , Proteínas de Transporte de Cátions/metabolismo , Mutação de Sentido Incorreto , Zinco/deficiência , Zinco/metabolismo , Acrodermatite/genética , Acrodermatite/patologia , Substituição de Aminoácidos , Transporte Biológico Ativo , Proteínas de Transporte de Cátions/química , Proteínas de Transporte de Cátions/genética , Células HEK293 , Humanos , Estrutura Secundária de Proteína , Relação Estrutura-Atividade , Zinco/química
19.
Pediatr Dermatol ; 36(4): 520-523, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31124168

RESUMO

Well-known causes of zinc deficiency, also referred to as acrodermatitis enteropathica (AE), include defects in intestinal zinc transporters and inadequate intake, but a rare cause of acquired zinc deficiency discussed here is an iatrogenic nutritional deficiency caused by parenteral nutrition administered without trace elements. While zinc-depleted parenteral nutrition causing dermatosis of acquired zinc deficiency was first reported in the 1990s, it is now again relevant due to a national vitamin and trace element shortage. A high index of suspicion may be necessary to diagnose zinc deficiency, particularly because early clinical findings are nonspecific. We present this case of acquired zinc deficiency in a patient admitted to a pediatric intensive care unit for respiratory distress and atypical pneumonia, who subsequently developed a severe bullous eruption due to iatrogenic zinc deficiency but was treated effectively with enteral and parenteral zinc supplementation, allowing for rapid re-epithelialization of previously denuded skin.


Assuntos
Acrodermatite/diagnóstico , Desnutrição/diagnóstico , Nutrição Parenteral Total/efeitos adversos , Zinco/deficiência , Acrodermatite/tratamento farmacológico , Acrodermatite/etiologia , Acrodermatite/patologia , Biópsia por Agulha , Criança , Serviço Hospitalar de Emergência , Humanos , Doença Iatrogênica , Imuno-Histoquímica , Unidades de Terapia Intensiva , Masculino , Desnutrição/etiologia , Multimorbidade , Nutrição Parenteral Total/métodos , Pneumonia Bacteriana/diagnóstico , Pneumonia Bacteriana/terapia , Prognóstico , Doenças Raras , Insuficiência Respiratória/diagnóstico , Insuficiência Respiratória/terapia , Medição de Risco , Resultado do Tratamento , Zinco/administração & dosagem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA