Pseudoxanthoma elasticum-like papillary dermal elastolysis in non-exposed skin

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.

Ultrastructural aspects of pseudoxanthoma elasticum

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.

Pseudoxanthoma elasticum: report of two cases

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.

Pseudoxantoma elástico perfurante periumbilical e periareolar / Periumbilical and periareolar perforating pseudoxanthoma elasticum

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.

Pseudoxanthoma elasticum: a report of three cases in a family

Pseudoxanthoma Elasticum is an inherited disorder characterized by generalized fragmentation and progressive calcification of the elastic tissues in the dermis, blood vessels and Bruch's membrane of the eye. Herein, we report 3 patients in a family with pseudoxanthoma elasticum: a father and his two sons

Gronblad-Standberg syndrome: a case report and review of literature

Gronblad-Strandberg syndrome is a rare congenital hereditary dysplasic disorder of the connective tissue, characterized by a progressive abnormal mineralization and dystrophic calcification of elastic tissue and collagen. The term Gronblad-Strandberg syndrome is used when angioid streaks in eye occur in association with pseudoxanthoma elasticum [PXE] of skin. We report a young patient having characteristic skin and eye manifestations of the syndrome. He was evaluated thoroughly regarding extent and potential systemic complications of the disease and was counseled accordingly. Since dermatologists are generally not familiar with historical background and ocular findings of the disease, a brief review of these two aspects is also made

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum is an inherited disorder of connective tissue that is associated with numerous systemic manifestations including various cardiovascular abnormalities. We present a case of a 35 years old lady who presented with abnormal wrinkling, pigmentation and laxity of skin. She also had hypertension, peripheral vascular disease, angioid streaks and mitral valve prolapse. She was thoroughly investigated and managed accordingly. She was also educated to minimize the potential risks involved and advised regular follow-up

Pseudoxantoma elástico símil elastólisis dérmica papilar / Pseudoxanthoma elasticum like papillary dermal elastolysis

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

Pseudoxantoma-símil / Pseudoxanthoma-like

Describimos una paciente con lesiones en cuello, semejantes al pseudoxantoma elástico. Rongioletti propuso el término de PXE-like papillary dermal elastolysis. El examen dermatológico mostró pápulas amarillentas, no foliculares, pequeñas, en región laterocervical y mastoidea, con aspecto de piel de pollo. Los exámenes de laboratorio, oftalmológicos, Rx de tórax y electrocardiograma fueron normales. Histológicamente se observó epidermis normal y en dermis reticular la presencia de fibras elásticas inmaduras. El aspecto cutáneo era igual al PXE, pero sin deposición de calcio en las fibras elásticas. Creemos que esta afección se debería a cambios secundarios producidos en los proteoglícanos como los que se observan en la elastosis solar y el PXE

Pseudoxantoma elástico: consideraçöes clínicas diagnósticas: análise de cinco casos / Pseudoxanthoma elasticum: clinical and diagnostic considerations: analysis of 5 cases

O pseudoxantoma elástico é uma desordem progressiva das fibras elásticas com alteraçöes dermatológicas, oftalmológicas e cardiovasculares. Os autores descrevem cinco novos casos e abordam aspectos clínicos e laboratoriais da moléstia