RESUMO
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.
Assuntos
Derme/patologia , Tecido Elástico/patologia , Pseudoxantoma Elástico/patologia , Idoso , Biópsia , Dermoscopia , Feminino , HumanosRESUMO
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.
Assuntos
Humanos , Feminino , Idoso , Pseudoxantoma Elástico/patologia , Derme/patologia , Tecido Elástico/patologia , Biópsia , DermoscopiaAssuntos
Humanos , Feminino , Idoso , Pseudoxantoma Elástico/patologia , Tecido Elástico/patologia , Biópsia , Derme/patologia , DermoscopiaRESUMO
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.
Assuntos
Derme/ultraestrutura , Tecido Elástico/ultraestrutura , Pseudoxantoma Elástico/patologia , Idoso , Colágeno/ultraestrutura , Feminino , Humanos , Microscopia Eletrônica de Varredura , Microscopia Eletrônica de Transmissão , Pele/patologia , Coluna Vertebral , Coloração e RotulagemRESUMO
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.
Assuntos
Humanos , Feminino , Idoso , Pseudoxantoma Elástico/patologia , Derme/ultraestrutura , Tecido Elástico/ultraestrutura , Pele/patologia , Coluna Vertebral , Coloração e Rotulagem , Microscopia Eletrônica de Varredura , Colágeno/ultraestrutura , Microscopia Eletrônica de TransmissãoAssuntos
Tecido Elástico/patologia , Pseudoxantoma Elástico/patologia , Idoso , Biópsia , Derme/patologia , Dermoscopia , Feminino , HumanosRESUMO
The pseudoxanthoma elasticum is a multisystemic heritable disease that primarily affects the connective tissue. It has been characterized by fragmentation and calcification of elastic fibers that can lead to complications of skin and cardiovascular system and changes in retina. Involvement of the oral mucosa has been described like white patches striated especially in the mucosa of both upper and lower lips. These oral signs are potentially useful to diagnose the disease, since it is an often undiagnosed disease due to the variability in phenotypic expressions. This study reports a case of pseudoxanthoma elasticum affecting a woman who developed lesions in the oral mucosa during the disease progression. Intraoral clinical assessment revealed the presence of changes mainly in lower labial mucosa and also slightly changes in the mouth floor and the upper labial mucosa. Therefore, the acknowledgment of oral pseudoxanthoma elasticum lesions helps dental practitioners to establish an early and appropriate diagnosis of this disease. This is very important because pseudoxanthoma elasticum is a multisystem disease with morbidity and mortality, and its early diagnosis and also the establishment of a follow-up protocol for these patients could prevent systemic and oral complications.
Assuntos
Mucosa Bucal/patologia , Pseudoxantoma Elástico/patologia , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
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.
Assuntos
Pseudoxantoma Elástico/patologia , Diagnóstico Precoce , Feminino , Angiofluoresceinografia , Humanos , Pessoa de Meia-Idade , Retina/patologia , Pele/patologiaRESUMO
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.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Pseudoxantoma Elástico/patologia , Diagnóstico Precoce , Angiofluoresceinografia , Retina/patologia , Pele/patologiaRESUMO
The periumbilical perforating pseudoxanthoma elasticum or perforating calcific elastosis is a rare disorder and its pathogenesis is associated with the alteration of elastic fibers, which may probably result from trauma. We present the case of a 70-year-old woman with long-time blackish maculas and keratotic surface papules on the periareolar and periumbilical regions. The histopathological examination revealed altered elastic fibers, replete with calcium and formation of a path in the dermis with elastic fibers degraded in their interior, confirming the clinical diagnosis.
Assuntos
Mamilos/patologia , Pseudoxantoma Elástico/patologia , Umbigo/patologia , Idoso , Doenças Mamárias/patologia , Feminino , HumanosRESUMO
O pseudoxantoma elástico perfurante periumbilical (PEPP), ou elastose cálcica perfurante, é distúrbio raro e sua patogênese está associada a alteração da fibra elástica, tendo o trauma provável participação. Apresenta-se caso de paciente de 70 anos com quadro de máculas enegrecidas e pápulas encimadas por crostas na região periareolar e periumbilical há mais de dez anos. O exame histopatológico revelou fibras elásticas alteradas, repletas de cálcio, e formação de pertuito na derme com fibras elásticas degradadas no seu interior. O caso descrito corresponde ao PEPP, que nesta paciente também acomete área periareolar bilateralmente.
The periumbilical perforating pseudoxanthoma elasticum or perforating calcific elastosis is a rare disorder and its pathogenesis is associated with the alteration of elastic fibers, which may probably result from trauma. We present the case of a 70-year-old woman with long-time blackish maculas and keratotic surface papules on the periareolar and periumbilical regions. The histopathological examination revealed altered elastic fibers, replete with calcium and formation of a path in the dermis with elastic fibers degraded in their interior, confirming the clinical diagnosis.
Assuntos
Idoso , Feminino , Humanos , Mamilos/patologia , Pseudoxantoma Elástico/patologia , Umbigo/patologia , Doenças Mamárias/patologiaRESUMO
A 55-year-old man with progressive loss of vision was referred for dermatology consultation for the evaluation of his skin lesions. The cutaneous examination of the patient revealed multiple small yellow papules, coalescing into plaques, on his neck, axillae and periumbilical regions. He also had redundant skin folds on the axillae. His peripheral pulses and blood pressure were normal. Angioid streaks were found in the ocular fundi. A skin biopsy specimen of the papule showed fragmentation of elastic fibers as well as calcification in the dermis. Given the clinical manifestations and the histopathologic findings, the patient's illness was diagnosed as pseudoxanthoma elasticum. The patient was then sent to undergo a thorough cardiovascular evaluation.
Assuntos
Pseudoxantoma Elástico , Humanos , Masculino , Pessoa de Meia-Idade , Pseudoxantoma Elástico/patologiaAssuntos
Humanos , Adulto , Feminino , Pseudoxantoma Elástico/diagnóstico , Dermatopatias Metabólicas , Pseudoxantoma Elástico/patologia , Pseudoxantoma Elástico/genética , Pseudoxantoma Elástico/dietoterapia , Pseudoxantoma Elástico/complicações , Inibidores da Agregação Plaquetária , Inibidores da Agregação Plaquetária/efeitos adversos , Cálcio da Dieta/efeitos adversos , Hipertensão/etiologia , Hipertensão/complicações , Infarto do Miocárdio/etiologia , Infarto do Miocárdio/complicações , Claudicação Intermitente/etiologia , Claudicação Intermitente/complicaçõesRESUMO
Elastic fibers in the extracellular matrix are an integral component of dermal connective tissue. The resilience and elasticity required for normal structure and function of the skin may be attributed to the network of elastic tissue. Advances in our understanding of elestic tissue physiology provide a foundation for studyng the pathogenesis of elastic tissue disorders. Many acquired disorders are nevertheless poorly understood due to the paucity of reported cases. Several acquired disorders in which accumulation or elastotic degeneration of dermal elastic fibers produces prominent clinical and histopathologic features have recenthy been described. They include elasdoterma, linear focal elastosis, and late-onset focal dermal elastosis and must be differentiated from better-known disorders, among them acquired pseudoxanthoma elasticum, elastosis perforans serpiginosa, and Favré-Racouchot syndrome.
Assuntos
Humanos , Diagnóstico Diferencial , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/etiologia , Doenças do Tecido Conjuntivo/patologia , Doenças do Tecido Conjuntivo/terapia , Elasticidade , Elastina/metabolismo , Pseudoxantoma Elástico/diagnóstico , Pseudoxantoma Elástico/etiologia , Pseudoxantoma Elástico/patologia , Pseudoxantoma Elástico/terapia , Tecido Elástico/anatomia & histologia , Tecido Elástico/patologiaRESUMO
Presentamos una paciente de 71 años, de sexo femenino, que presenta lesiones cutáneas de un año de evolución. Las mismas son pápulas interfoliculares blanquecinas en las regiones laterales y posterior del cuello, que semejan pseudoxantoma elástico. Los exámenes oftalmológico y cardiovascular fueron normales. La histología reveló ausencia de fibras elásticas en la dermis papilar. Con estos hallazgos se realizó el diagnóstico de pseudoxantoma elástico simil elastólisis dérmica papilar. Esta nueva entidad forma parte de lo que Rongioletti y colaboradores denominaron síndromes fibroelastolíticos relacionados con la edad, considerados como patrones clínico-patológicos del envejecimiento cutáneo intrínseco