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1.
An Bras Dermatol ; 95(3): 351-354, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32265056

RESUMO

Secondary osteoma cutis is a phenomenon that may occur in several conditions. When it occurs in a melanocytic nevus it is named osteonevus of Nanta, an event considered uncommon and characterized by the presence of bone formation adjacent or interposed with melanocytic cells. There are reports of its occurrence in various melanocytic lesions, being more frequently associated with intradermal nevus. We report a case of osteonevus of Nanta in combined nevus, possibly the first description of this association.


Assuntos
Doenças Ósseas Metabólicas/patologia , Nevo Intradérmico/patologia , Nevo Pigmentado/patologia , Ossificação Heterotópica/patologia , Dermatoses do Couro Cabeludo/patologia , Dermatopatias Genéticas/patologia , Neoplasias Cutâneas/patologia , Adulto , Doenças Ósseas Metabólicas/cirurgia , Feminino , Humanos , Imuno-Histoquímica , Melanócitos/patologia , Nevo Intradérmico/cirurgia , Nevo Pigmentado/cirurgia , Ossificação Heterotópica/cirurgia , Dermatoses do Couro Cabeludo/cirurgia , Dermatopatias Genéticas/cirurgia , Neoplasias Cutâneas/cirurgia
2.
Invest Ophthalmol Vis Sci ; 61(3): 16, 2020 03 09.
Artigo em Inglês | MEDLINE | ID: mdl-32176264

RESUMO

Purpose: In this experimental study, we quantify retinal microvasculature morphological features with depth, region, and age in immature and mature ovine eyes. These data identify morphological vulnerabilities in young eyes to inform the mechanics of retinal hemorrhage in children. Methods: Retinal specimens from the equator and posterior pole of preterm (n = 4) and adult (n = 9) sheep were imaged using confocal microscopy. Vessel segment length, diameter, angular asymmetry, tortuosity, and branch points were quantified using a custom image segmentation code. Significant differences were identified through two-way ANOVAs and correlation analyses. Results: Vessel segment lengths were significantly shorter in immature eyes compared to adults (P < 0.003) and were significantly shorter at increasing depths in the immature retina (P < 0.04). Tortuosity significantly increased with depth, regardless of age (P < 0.05). These data suggest a potential vulnerability of vasculature in the deeper retinal layers, particularly in immature eyes. Preterm retina had significantly more branch points than adult retina in both the posterior pole and equator, and the number increased significantly with depth (P < 0.001). Conclusions: The increased branch points and decreased segment lengths in immature microvasculature suggest that infants will experience greater stress and strain during traumatic loading compared to adults. The increased morphological vulnerability of the immature microvasculature in the deeper layers of the retina suggest that intraretinal hemorrhages have a greater likelihood of occurring from trauma compared to preretinal hemorrhages. The morphological features captured in this study lay the foundation to explore the mechanics of retinal hemorrhage in infants and identify vulnerabilities that explain patterns of retinal hemorrhage in infants.


Assuntos
Hemorragia Retiniana/patologia , Vasos Retinianos/anatomia & histologia , Envelhecimento/patologia , Envelhecimento/fisiologia , Animais , Animais Recém-Nascidos , Artérias/anormalidades , Artérias/patologia , Artérias/fisiopatologia , Fenômenos Biomecânicos , Feminino , Humanos , Instabilidade Articular/patologia , Instabilidade Articular/fisiopatologia , Microscopia Confocal , Microvasos/anatomia & histologia , Microvasos/fisiologia , Variações Dependentes do Observador , Hemorragia Retiniana/etiologia , Vasos Retinianos/fisiologia , Ovinos , Dermatopatias Genéticas/patologia , Dermatopatias Genéticas/fisiopatologia , Malformações Vasculares/patologia , Malformações Vasculares/fisiopatologia
3.
An Bras Dermatol ; 94(5): 608-611, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31777364

RESUMO

Dissecting cellulitis is an inflammatory, chronic, and recurrent disease of the hair follicles that mainly affects young Afro-descendent men. Trichoscopy is a method of great diagnostic value for disorders of the scalp. Clinical and trichoscopic findings of dissecting cellulitis are heterogeneous and may present features common to non-cicatricial and scarring alopecia. This article presents the trichoscopic findings of dissecting cellulitis that help in the diagnosis and consequent institution of the appropriate therapy and better prognosis of the disease.


Assuntos
Celulite (Flegmão)/diagnóstico por imagem , Celulite (Flegmão)/patologia , Dermoscopia/métodos , Folículo Piloso/diagnóstico por imagem , Folículo Piloso/patologia , Dermatoses do Couro Cabeludo/diagnóstico por imagem , Dermatoses do Couro Cabeludo/patologia , Dermatopatias Genéticas/diagnóstico por imagem , Dermatopatias Genéticas/patologia , Eritema/diagnóstico por imagem , Eritema/patologia , Cabelo/diagnóstico por imagem , Cabelo/patologia , Humanos
5.
An. bras. dermatol ; 94(5): 608-611, Sept.-Oct. 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1054872

RESUMO

Abstract Dissecting cellulitis is an inflammatory, chronic, and recurrent disease of the hair follicles that mainly affects young Afro-descendent men. Trichoscopy is a method of great diagnostic value for disorders of the scalp. Clinical and trichoscopic findings of dissecting cellulitis are heterogeneous and may present features common to non-cicatricial and scarring alopecia. This article presents the trichoscopic findings of dissecting cellulitis that help in the diagnosis and consequent institution of the appropriate therapy and better prognosis of the disease.


Assuntos
Humanos , Dermatoses do Couro Cabeludo/diagnóstico por imagem , Celulite (Flegmão)/patologia , Celulite (Flegmão)/diagnóstico por imagem , Folículo Piloso/patologia , Folículo Piloso/diagnóstico por imagem , Dermoscopia/métodos , Dermatoses do Couro Cabeludo/patologia , Dermatopatias Genéticas/patologia , Dermatopatias Genéticas/diagnóstico por imagem , Eritema/diagnóstico , Eritema/patologia , Cabelo/patologia , Cabelo/diagnóstico por imagem
7.
Medicine (Baltimore) ; 98(33): e16802, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31415390

RESUMO

Impact of arterial stiffness on aortic morphology has not been well evaluated. We sought to investigate the association of brachial-ankle pulse wave velocity (baPWV) with aortic calcification and tortuosity.A total of 181 patients (65.4 ±â€Š10.4 years, males 59.7%) who underwent computed tomographic angiography and baPWV measurement within 1 month of study entry were retrospectively reviewed. Aortic calcification was quantified by the calcium scoring software system. Aortic tortuosity was defined as the length of the midline in the aorta divided by the length of linear line from the aortic root to the distal end of the thoraco-abdominal aorta. In simple correlation analyses, baPWV was correlated with aortic calcification (r = 0.36, P < .001) and tortuosity (r = 0.16, P = .030). However, these significances disappeared after controlling for confounders in multivariate analyses. Factors showing an independent association with aortic calcification were age (ß = 0.37, P < .001), hypertension (ß = 0.19, P = .003), diabetes mellitus (ß = 0.12, P = .045), smoking (ß = 0.17, P = .016), and estimated glomerular filtration rate (ß = -0.25, P = .002). Factors showing an independent association with aortic tortuosity were age (ß = 0.34, P < .001), body mass index (ß = -0.19, P = .018), and diabetes mellitus (ß = -0.21, P = .003).In conclusion, baPWV reflecting arterial stiffness was not associated with aortic calcification and tortuosity. Traditional cardiovascular risk factors were more influential to aortic geometry. Further studies with a larger sample size are needed to confirm our results.


Assuntos
Aorta/patologia , Artérias/anormalidades , Instabilidade Articular/fisiopatologia , Dermatopatias Genéticas/fisiopatologia , Calcificação Vascular/fisiopatologia , Malformações Vasculares/fisiopatologia , Rigidez Vascular/fisiologia , Idoso , Índice Tornozelo-Braço , Aorta/fisiopatologia , Artérias/patologia , Artérias/fisiopatologia , Índice de Massa Corporal , Angiografia por Tomografia Computadorizada , Feminino , Humanos , Instabilidade Articular/patologia , Masculino , Pessoa de Meia-Idade , Análise de Onda de Pulso , Estudos Retrospectivos , Dermatopatias Genéticas/patologia , Calcificação Vascular/patologia , Malformações Vasculares/patologia
9.
Genes (Basel) ; 10(9)2019 08 21.
Artigo em Inglês | MEDLINE | ID: mdl-31438591

RESUMO

The term linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region. Biallelic variants in XYLT1 and XYLT2, encoding xylosyltransferases, are associated with Desbuquois dysplasia type 2 and spondylo-ocular syndrome, respectively. Defects in B4GALT7 and B3GALT6, encoding galactosyltransferases, lead to spondylodysplastic Ehlers-Danlos syndrome (spEDS). Mutations in B3GAT3, encoding a glucuronyltransferase, were described in 25 patients from 12 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Herein, we report on a 13-year-old girl with a clinical presentation suggestive of spEDS, according to the 2017 EDS nosology, in whom compound heterozygosity for two B3GAT3 likely pathogenic variants was identified. We review the spectrum of B3GAT3-related disorders and provide a comparison of all LK patients reported up to now, highlighting that LKs are a phenotypic continuum bridging EDS and skeletal disorders, hence offering future nosologic perspectives.


Assuntos
Fenótipo de Síndrome de Antley-Bixler/genética , Aracnodactilia/genética , Doenças Ósseas/congênito , Craniossinostoses/genética , Nanismo/genética , Glucuronosiltransferase/genética , Síndrome de Marfan/genética , Mutação , Osteocondrodisplasias/genética , Fenótipo , Dermatopatias Genéticas/genética , Adolescente , Fenótipo de Síndrome de Antley-Bixler/patologia , Aracnodactilia/patologia , Doenças Ósseas/genética , Doenças Ósseas/patologia , Craniossinostoses/patologia , Nanismo/patologia , Feminino , Humanos , Síndrome de Marfan/patologia , Osteocondrodisplasias/patologia , Dermatopatias Genéticas/patologia
10.
Dermatol Online J ; 25(6)2019 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-31329384

RESUMO

Immunodeficiency is most commonly related to inherited syndromes, infections, chemotherapy, or aging. As the population of individuals with immunodeficiency continues to grow, physicians are confronted with the task of diagnosing dermatologic disease in this population. Cutaneous involvement in immunodeficiency disorders serves as a useful tool that aids diagnosis and provides prognostic value. Given that cutaneous manifestations often herald an underlying immunodeficiency disorder, understanding the complexities of these diseases is important for appropriate clinical management. Although certain diseases may present with stereotypical cutaneous lesions, others may involve more variable lesions that require specialized consultation for diagnosis and treatment recommendations. In this review, we discuss a number of cutaneous findings associated with primary immunodeficiencies. Awareness of these cutaneous associations may aid in the early detection and prompt treatment of these potentially serious immunologic disorders.


Assuntos
Doenças da Imunodeficiência Primária/patologia , Dermatopatias Genéticas/patologia , Pele/patologia , Humanos
13.
Am J Dermatopathol ; 41(12): 945-947, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31268923

RESUMO

Primary localized cutaneous nodular amyloidosis is a rare plasma cell dyscrasia in which an amorphous material consisting of light chain amyloid is produced and deposited in the dermis, with varied clinical presentation. We describe the case with unusual and tumor lush clinical presentation in the face with no progression to systemic disease and no evidence of extracutaneous commitment.


Assuntos
Amiloidose Familiar/patologia , Derme/patologia , Dermatoses Faciais/patologia , Dermatopatias Genéticas/patologia , Adulto , Amiloidose Familiar/cirurgia , Derme/cirurgia , Dermatoses Faciais/cirurgia , Humanos , Masculino , Recidiva , Dermatopatias Genéticas/cirurgia , Resultado do Tratamento
14.
Pediatr Dermatol ; 36(5): 732-734, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31215057

RESUMO

We describe a 4-week-old baby boy who presented with white firm cutaneous nodules and failure to thrive. He did not have dysmorphic features, and laboratory tests including serum calcium, phosphorous, thyroid function, and parathyroid hormone level were within normal ranges. Whole exome sequencing revealed an inactivating mutation in GNAS that was previously described as causing pseudohypoparathyroidism.


Assuntos
Doenças Ósseas Metabólicas/genética , Doenças Ósseas Metabólicas/patologia , Cromograninas/genética , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Mutação/genética , Ossificação Heterotópica/genética , Ossificação Heterotópica/patologia , Dermatopatias Genéticas/genética , Dermatopatias Genéticas/patologia , Humanos , Recém-Nascido , Masculino
15.
Einstein (Sao Paulo) ; 17(3): eRC4714, 2019 Jun 13.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31215592

RESUMO

Ligneous conjunctivitis is a rare form of chronic and recurrent bilateral conjunctivitis, in which thick membranes develop on the tarsal conjunctiva and on other mucosae. We report the case of a 55-year old female patient with bilateral ligneous conjunctivitis who was successfully treated with 50% heterologous serum. There was no recurrence or side effects after one-year follow-up. We suggest the use of 50% heterologous serum should be further studied to better determine its efficacy as a treatment option for ligneous conjunctivitis.


Assuntos
Plasminogênio/deficiência , Soro , Conjuntivite/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Plasminogênio/uso terapêutico , Dermatopatias Genéticas/patologia , Resultado do Tratamento
17.
Skinmed ; 17(2): 131-133, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31145068

RESUMO

A 41-year-old man presented with an asymptomatic, slowly enlarging plaque on the lower aspect of his left cheek, present for approximately 4 months. His past medical history was remarkable for allergic rhinitis. Three years before, he had had a nearly identical lesion surgically excised by Mohs method at the same site. On examination, there was a waxy, yellowish plaque, measuring 2.1 cm × 1.0 cm on the left cheek in proximity to the oral commissure (Figure 1). A shave biopsy revealed an atrophic epidermis with nodular aggregates of eosinophilic material in the dermis (Figure 2). Higher magnification showed an inflammatory infiltrate composed largely of plasma cells, which stained positively for CD20 and κ light chains (Figure 3). Congo red staining confirmed the diagnosis of nodular amyloidosis (Figure 4).


Assuntos
Amiloidose Familiar/diagnóstico , Amiloidose Familiar/patologia , Dermatoses Faciais/diagnóstico , Dermatoses Faciais/patologia , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/patologia , Adulto , Amiloidose Familiar/terapia , Bochecha , Dermatoses Faciais/terapia , Humanos , Masculino , Recidiva , Dermatopatias Genéticas/terapia
19.
BMJ Case Rep ; 12(5)2019 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-31061192

RESUMO

Nodular primary localised cutaneous amyloidosis (NPLCA) is the rarest form of cutaneous amyloidosis, with a predilection for facial and acral skin. We present a 63-year-old Caucasian with a 10-year history of an asymptomatic plaque on his left cheek, starting 2 years after being scratched by a cat in the same area. A biopsy showed nodules of eosinophilic material in the deep dermis and subcutaneous fat, with plasma cells in the dermis. Congo red staining displayed apple-green birefringence within the eosinophilic material. Immunohistochemistry for serum amyloid P was positive within the eosinophilic material and immunohistochemistry showed lambda light chain restriction within the plasma cells, consistent with NPLCA. The causal relationship of the cat scratch to NPLCA in our patient remains unclear. While trauma-induced amyloidosis has been recognised in papular and macular amyloid, few case reports indicate an association with nodular amyloidosis.


Assuntos
Amiloidose Familiar/patologia , Queratinócitos/patologia , Dermatopatias Genéticas/patologia , Pele/patologia , Vermelho Congo , Face/patologia , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Conduta Expectante
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