ABSTRACT
Abstract Pseudoxanthoma elasticum-like papillary dermal elastolysis is an acquired elastic tissue disorder clinically similar to pseudoxanthoma elasticum in the absence of systemic involvement. Histopathologically, special staining of elastic fibers demonstrates a total or partial band-like loss of elastic fibers in the papillary dermis. Although ultraviolet radiation seems to be one of the main etiological factors in this entity, we report a case of pseudoxanthoma elasticum-like papillary dermal elastolysis on the neck of a woman who wore hijab.
Subject(s)
Humans , Female , Aged , Pseudoxanthoma Elasticum/pathology , Dermis/pathology , Elastic Tissue/pathology , Biopsy , DermoscopyABSTRACT
Urinary calculi are characterized by high incidence and recurrence rate, which is a challenge in urology. The theory of Randall plaque is widely recognized by scholars. The mechanism of Randall plaque formation includes vascular calcification, osteogenic transformation and so on. However, it still lacks a unified theory for the Randall plaque formation. As an important type of non-coding RNA, long non-coding RNA (lncRNA) is closely related to the occurrence and progress of many diseases. The difference in lncRNA expression between the renal papillary tissues of non-calculous patients and the renal papillary tissues of Randall plaque in renal calculous patients suggests that lncRNA may be involved in the formation of Randall plaque. Pseudoxanthoma elasticum is a rare autosomal recessive hereditary disease, caused by a mutation in the ABCC6 gene. Patients with pseudoxanthoma elasticum have a high prevalence of calculi, and plaque formation is observed in the patient's kidney, which may suggest that mutation in the ABCC6 gene might be involved in the formation of Randall plaque.
Subject(s)
Humans , Kidney , Kidney Calculi , Multidrug Resistance-Associated Proteins , Mutation , Plaque, Atherosclerotic , Pseudoxanthoma Elasticum , Vascular CalcificationABSTRACT
Resumo O pseudoxantoma elástico é uma doença generalizada do tecido conjuntivo envolvendo a pele, olhos e sistema cardiovascular desencadeando a fragmentação e calcificação das fibras elásticas. Geralmente ocorre após a puberdade, as manifestações características são manchas pequenas, circunscritas, amareladas, localizadas no pescoço, axila e pregas inguinais. Estrias angioides na retina, tendência à hemorragia e insuficiência arterial são as complicações mais comuns. Esta doença pode ser herdada como autossômica dominante ou recessiva. O tratamento das manifestações oculares convencional é através da fototerapia a laser impedindo a ocorrência de hemorragias locais. Entretanto, novas abordagens terapêuticas estão sendo desenvolvidas como a utilização em longo prazo de drogas antiangiogênicas, as quais atuam inibindo a neovascularização ocular. Apesar de não ter ainda efetivamente substituído o tratamento original, pesquisas recentes já evidenciam benefícios da nova técnica. O objetivo deste estudo é relatar sobre o caso de uma paciente de 37 anos, portadora do pseudoxantoma elástico, com estrias angioides e hemorragia ocular, e o tratamento eficaz com a terapia antiangiogênica no ambulatório de oftalmologia em Nova Iguaçu, Rio de Janeiro.
Abstract The pseudoxanthoma elasticum is a generalized disease of the connective tissue involving the skin, eyes and cardiovascular system triggering the fragmentation and calcification of elastic fibers. Usually occurs after puberty, the manifestations characteristics are small spots, circumscribed, yellowish, located on the neck, axilla and inguinal folds. Angioid streaks in the retina, tendency to hemorrhage and arterial insufficiency are the most common complications. This disease can be inherited as autosomal dominant or recessive. The treatment of ocular manifestations is through the conventional phototherapy laser preventing the occurrence of local hemorrhages. However, new therapeutic approaches are being developed as the long-term use of drugs antiangiogenic, which act by inhibiting the ocular neovascularization. Despite not having yet effectively replaced the original treatment, recent research already show benefits of new technique. The objective of this study is to report on a case of a patient of 37 years, the carrier of the Pseudoxanthoma Elasticum, with angioid streaks and ocular hemorrhage, and the effective treatment with antiangiogenic therapy at the clinic of Ophthalmology in Nova Iguaçu, Rio de Janeiro.
Subject(s)
Humans , Female , Adult , Pseudoxanthoma Elasticum/complications , Eye Hemorrhage/etiology , Angioid Streaks/etiology , Ophthalmoscopy , Tonometry, Ocular , Eye Hemorrhage/diagnosis , Eye Hemorrhage/drug therapy , Fluorescein Angiography , Visual Acuity , Angiogenesis Inhibitors/therapeutic use , Intravitreal Injections , Bevacizumab/therapeutic use , Ranibizumab/therapeutic use , Slit Lamp Microscopy , Angioid Streaks/diagnosis , Angioid Streaks/drug therapySubject(s)
Humans , Female , Aged , Pseudoxanthoma Elasticum/pathology , Elastic Tissue/pathology , Biopsy , Dermis/pathology , DermoscopyABSTRACT
Abstract: We report the ultrastructural findings in a case of a 72-year-old black woman with confluent yellowish papules in the cervical region. She had no comorbidities. Ophthalmological examination, electrocardiogram, and echocardiogram were normal. Hematoxylin-eosin staining of the affected skin showed strong alterations in the mid-dermis with irregular clumps of eosinophilic material and loss of the normal parallel arrangement of collagen bundles. Orcein staining revealed that the elastic fibers lost their normal linear configuration, showing clump fragmentation, sometimes forming square structures. Transmission electron microscopy showed aberrant elastic fibers with an irregular outline and heterogenic inner structures. We also observed small elastic fibers. Collagen fibers showed a normal structure with irregular distribution. Scanning electron microscopy revealed important disorganization of collagen fibers and small stone-like deposits measuring around 5 µm associated with bigger structures ranging from 10-16 µm. Higher magnification revealed that these small stone-like structures were sometimes polyhedral-shaped or squared.
Subject(s)
Humans , Female , Aged , Pseudoxanthoma Elasticum/pathology , Dermis/ultrastructure , Elastic Tissue/ultrastructure , Skin/pathology , Spine , Staining and Labeling , Microscopy, Electron, Scanning , Collagen/ultrastructure , Microscopy, Electron, TransmissionABSTRACT
No abstract available.
Subject(s)
Humans , Glaucoma, Angle-Closure , Pseudoxanthoma ElasticumABSTRACT
La D-penicilamina es la opción terapéutica más utilizada en la enfermedad de Wilson, rara enfermedad genética, autosómica recesiva, en la cual existe una alteración en el metabolismo del cobre que se deposita en los tejidos (hígado, encéfalo y córnea). Presenta numerosos efectos adversos, la mayoría cutáneos, que se observan cuando la droga es utilizada en altas dosis y por largo tiempo; entre ellos se encuentran las dermatosis degenerativas, que incluyen elastosis perforante serpiginosa, cutis laxa, anetodermia y pseudo-pseudoxantoma elástico (también llamado pseudoxantoma elástico símil o pseudoxantoma elástico like). Se presenta una paciente de 29 años con antecedentes de enfermedad de Wilson asociada a elastosis perforante serpiginosa y pseudo-pseudoxantoma elástico, ambas secundarias al tratamiento con D-penicilamina.
Penicillamineis the most commonly used therapeutic option in Wilson's disease.This is a rare, genetic, autosomal recessive diseasein which there is an alteration inthe metabolism of copper that is deposited in the tissues (liver, brain and cornea).It has numerous adverse effects, most of them affecting skin, but they are onlyobserved when the drug is used in high doses and for a long time, such as perforatingelastosis serpiginosa, cutis laxa, anetodermia and pseudo-pseudoxantomaelasticum (also called elasticum pseudoxantoma simil or elasticum pseudoxantomalike). We present the case of a29 year-old woman with a history of Wilson's diseaseand two concomitant degenerative dermatoses: elastosis perforans serpiginosa andpseudo pseudoxanthoma elasticum, both of them, secondary to treatment with Dpenicillamine.
Subject(s)
Humans , Disease , Hepatolenticular Degeneration/diagnosis , Anetoderma , Cutis Laxa , Penicillamine , Pseudoxanthoma ElasticumABSTRACT
Pseudoxanthoma elasticum (PXE)-like disorder with multiple coagulation factor deficiency is a genetic disease characterized by dystrophic mineralization of the connective tissue in multiple organs such as the skin, arteries, and retina. Patients with this disorder have excessive folding and sagging of the skin with loss of recoil, as well as coagulopathy. Crohn's disease is a chronic inflammatory condition of the gastrointestinal tract, which primary affects the small intestine, often leading to malnutrition. Here, we describe the case of a 25-year-old woman who presented with these diseases. We found that nutrient deficiency due to long-term Crohn's disease aggravated the coagulopathy associated with PXE-like disorder.
Subject(s)
Adult , Female , Humans , Arteries , Blood Coagulation Factors , Connective Tissue , Crohn Disease , Gastrointestinal Tract , Intestine, Small , Malnutrition , Pseudoxanthoma Elasticum , Retina , SkinABSTRACT
Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system. Its cause lies on mutations in the ABCC6 gene, which lead to reduction or absence of the transmembrane transport ADP dependent protein (MRP6), causing an accumulation of extracellular material and subsequent deposition of calcium and other minerals in the elastic tissue. The authors report two cases of pseudoxanthoma elasticum, emphasizing its major clinical features and the importance of early diagnosis of the disorder, aiming for adequate therapeutic management of associated complications.
Subject(s)
Female , Humans , Middle Aged , Pseudoxanthoma Elasticum/pathology , Early Diagnosis , Fluorescein Angiography , Retina/pathology , Skin/pathologyABSTRACT
Un gran número de enfermedades sistémicas durante su evolución pueden presentar manifestaciones cutáneas, enocasiones propias de la dolencia, aunque en otras pueden ser el único indicador de la presencia de una enfermedadinterna asintomática, por ello es fundamental su reconocimiento. Su aparición debe alertar al médico sobre el probableinicio de ciertos desórdenes sistémicos, lo que permitirá realizar un diagnóstico precoz, con las implicanciasclínicas y terapéuticas de intervención a corto y largo plazo. El propósito de este trabajo es describir las lesionescutáneas que con mayor frecuencia se asocian a enfermedades internas, lo cual puede ser de gran utilidad para elejercicio de médicos generalistas, internistas y dermatólogos.
Skin signs of systemic diseases occur frequently, and sometimes constitute the first symptoms of an internal disease; furthermore,these manifestations may be the sole expressions of otherwise asymptomatic systemic disorders, so it is neecessary tobecome acquainted with them. Their appearance should alert us of the likely onset of a systemic disorder, which allows anearly diagnosis, with clinical and therapeutic implications both in the short and the long term. We describe the clinicalfeatures of skin lesions observed in several internal diseases which will be useful to general practitioners, internists anddermatologists in the diagnosis of systemic diseases.
Subject(s)
Humans , Skin Diseases, Metabolic , Hematologic Diseases , Skin Diseases , Endocrine System Diseases , Paraneoplastic Syndromes/complications , Paraneoplastic Syndromes/diagnosis , Lipid Metabolism Disorders , Pseudoxanthoma Elasticum , Acrodermatitis , Dermatitis Herpetiformis , Dermatomyositis , Scleroderma, Systemic , Lupus Erythematosus, Systemic , Panniculitis , Pruritus , Psoriasis , Purpura , Sarcoidosis , Ehlers-Danlos SyndromeABSTRACT
Nuestra piel tiene propiedades de elasticidad y firmeza, dada por las fibras del tejido conectivo ubicadas en la dermis. La elasticidad está dada principalmente por pequeñas fibraselásticas compuestas de elastina, mientras que la firmeza se explica por las redes de fibrillas de colágeno tipo I, III y V. La relevancia de estos componentes de la matriz extracelular, junto con otras fibras, como fibrilina y fibulina, se ha reflejado en el reconocimiento de diferentes enfermedades hereditarias causadas por mutaciones en estas proteínas. Muchas de éstas pueden tener características comunes, constituyendo un espectro de alteraciones, dependiendo de la proteína alterada, dando un pronóstico particular tanto en morbilidad y mortalidad. En esta revisión se desarrollarán las principales patologías de la dermis de importancia en dermatología.
Our skin is flexible and firm due to the fibers of the connective tissue in the dermis. Flexibility is mainly given by little elastic elastine fibers, meanwhile firmness is expressed by fibers networks made of collagen type I, III and V. The importance given to these components, including other fibers like fibrillin and fibulin in the extracellular matrix has been displayed in the recognition of different hereditary diseases caused by mutations in these proteins. Many of them have common characteristics, that build a wide spectrum of disorders depending on the altered protein, and give a particular prognostic in morbidity as well as in mortality. The main pathologies of the dermis with an importance in dermatology will be considered in this review.
Subject(s)
Humans , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/therapy , Diagnosis, Differential , Ehlers-Danlos Syndrome , Skin Diseases, Genetic/physiopathology , Skin Diseases, Genetic/genetics , Focal Dermal Hypoplasia , Lipoid Proteinosis of Urbach and Wiethe , Marfan Syndrome , Progeria , Prognosis , Pseudoxanthoma ElasticumABSTRACT
Pseudoxanthoma elasticum is a multiorgan disorder, characterized by ectopic mineralization of elastic fibers of skin, eyes, and cardiovascular system. The dermatologic manifestations include laxity of skin, as well as cutis laxa-like wrinkling especially on both axillae. The classic forms of pseudoxanthoma elasticum are due to mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, a presumed transmembrane transporter expressed primarily in the liver and the kidneys. Recent case reports of mutations of gamma-glutamyl carboxylase (GGCX) gene describe associations with vitamin K-dependent coagulation factor deficiency and pseudoxanthoma elasticum as well. A 23-year old woman presented with laxity on both axillae and trunk and a history of vitamin K-dependent coagulation factor deficiency, diagnosed 2 years ago. Fragmented and markedly degenerated elastic fibers with calcium deposition were identified on biopsy specimens. Herein, we report a case of autosomal recessive pseudoxanthoma elasticum combined with vitamin K-dependent coagulation factor deficiency.
Subject(s)
Female , Humans , Axilla , Biopsy , Blood Coagulation Factors , Calcium , Carbon-Carbon Ligases , Cardiovascular System , Elastic Tissue , Eye , Genes, vif , Kidney , Liver , Pseudoxanthoma Elasticum , Skin , VitaminsABSTRACT
El seudoxantoma elástico es un raro desorden caracterizado por degeneración de las fibras elásticas con áreas de calcificación en la piel, la retina y el sistema cardiovascular. Objetivo: presentar el caso de una paciente con esta enfermedad, constituye el segundo reporte en nuestro país. Caso clínico: paciente femenina de 37 años con antecedente de salud presentó micropápulas en regiones corporales de pliegues cutáneos, asociadas a bandas angioides en el fondo de ojo, edema en miembros inferiores, hipertensión arterial severa y pulsos periféricos muy débiles. Conclusiones: el estudio histopatológico de las lesiones es concluyente de un seudoxantoma elástico; que se clasifica como tipo I de acuerdo al patrón de herencia evidenciado. Este síndrome constituye una enfermedad sin tratamiento específico por lo que se recomienda una valoración multidisciplinaria para su mejor estudio. La causa más frecuente de morbilidad es la disminución de la agudeza visual, de ahí la importancia de la realización sistemática del fondo de ojo.
Pseudoxanthoma elasticum is a rare disorder characterized by degeneration of the elastic fibers with calcification areas in the skin, retina and cardiovascular system. Objective: to present the case of a patient with this disease, the second reported in our country. Case report: a female of 37 years old patient presented micropapulae in body regions of skinfolds, associated with angioid bands in the eyeground, edema in lower limbs, severe hypertension and very weak peripheral pulse. The histopathologic lesions study is conclusive of a pseudoxanthoma elasticum; that is classified as type I according to the inheritance pattern as is clearly shown. This syndrome is a disease without specific treatment so it is recommend a multidisciplinary assessment for a better study. The most common cause of morbidity is the decrease in visual acuity, hence the importance of the systematic fulfillment of the eyeground.
Subject(s)
Humans , Female , Adult , Adult , Case Reports , Hypertension , Pseudoxanthoma Elasticum , Skin/injuriesSubject(s)
Humans , Female , Neck , Skin/pathology , Pseudoxanthoma Elasticum/pathology , Angioid StreaksABSTRACT
La elastólisis de la dermis papilar similar a pseudoxantoma elástico es un raro trastorno adquirido caracterizado por pápulas y placas amarillentas localizadas principalmente en cuello y región supraclavicular. Los hallazgos histopatológicos y la ausencia de afectación sistémica lo diferencian del pseudoxantoma elástico. Comunicamos seis pacientes de sexo femenino de entre 72 y 79 años con diagnóstico clínico e histopatológico de esta entidad.
Subject(s)
Humans , Female , Aged , Dermis/pathology , Elastic Tissue/pathology , Diagnosis, Differential , Skin Diseases, Papulosquamous/diagnosis , Skin Diseases, Papulosquamous/pathology , Pseudoxanthoma ElasticumABSTRACT
Fibroelastolytic papulosis of the neck (FEPN) encompasses a spectrum of two disorders that were previously reported as pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) and white fibrous papulosis of the neck (WFPN). The clinical presentation of FEPN is asymptomatic to mildly pruritic whitish-yellow papules that may coalesce into cobblestone patterned plaques that resemble pseudoxanthoma elasticum (PXE). The histology is characterized by a decrease or loss of elastic fibers in the papillary dermis and this is sometimes accompanied by a minimal or nodular increase of dermal collagen fibers. We report here on a 28-year-old Korean man with asymptomatic, multiple, skin-colored to slightly yellowish, match-head sized, cobblestone-patterned papules on the neck, and these were histologically consistent with FEPN and the papules showed slightly increased dermal collagen associated with decreased and fragmented elastic fibers, elastin and tropoelastin. The pathogenesis of FEPN in this case might have been related with mild dermal inflammation, followed by fragmentation, elastolysis and increased dermal collagen.
Subject(s)
Adult , Humans , Collagen , Dermis , Elastic Tissue , Elastin , Inflammation , Neck , Pseudoxanthoma Elasticum , TropoelastinABSTRACT
Pseudoxanthoma elasticum (PXE) is a heritable disorder of elastic tissue and it has many systemic manifestations. PXE is a systemic disorder that most markedly affects the elastic tissues in the skin, retina and blood vessels. Defects in the ABCC6 gene lead to calcification of elastic tissue. We herein report on two cases of pseudoxanthoma elasticum that presented with focal involvement on the skin of the neck without marked wrinkling.