Advances in Pseudoxanthoma Elasticum / 罕见病研究

Pseudoxanthoma elasticum(PXE) is a rare, genetic, metabolic disease characterized by ectopic calcification of connective tissue that primarily affects the skin, retina and cardiovascular system, which characteristic histopathology is calcification and fragmentation of elastic fibers in dermis.PXE is mainly caused by ABCC6 gene mutation, which is one of the important regulators of the serum inorganic pyrophosphate (PPi) homoeostasis, a main inhibitor of ectopic calcification and the deficiency of PPi can lead to ectopic calcification. The clinical features are highly heterogeneous.Typical skin lesions of PXE are yellowish flat papules and plaques, and the symptoms of skin relaxation and shrinkage can be manifested in the later stage.Retina, cardiovascular and other complications seriously affect the health and quality of life of patients. The current therapy of PXE include symptom improvement, systemic anti-ectopic calcification medicine, gene therapy and so on.We review the pathogenesis, clinical manifestations, diagnosis and treatment of PXE.

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.

Multiple whitish papules on the posterior neck of an elderly woman

Abstract White fibrous papulosis of the neck is a rare entity, with fewer than 50 cases described. It is a benign pathology whose main interest lies in its broad differential diagnosis, especially with pseudoxanthoma elasticum. The authors report the case of a 77-year-old woman with multiple yellow-white monomorphic papules on the posterior cervical region, with years of evolution. Cutaneous biopsy revealed a nodular area in the superficial and middle reticular dermis, with slight thickening of the collagen fibers and focally enlarged elastic fibers, aspects highlighted in the Verhoeff staining that additionally showed absence of elastic fibers in the papillary dermis.

Pseudoxantoma elástico: A propósito de un caso / Pseudoxanthoma elasticum: A case report

El pseudoxantoma elástico o síndrome de Gröenblad-Strandberg, es una rara enfermedad multisistémica hereditaria, que se caracteriza por la mineralización ectópica de los tejidos conectivos y se manifiesta clínicamente mediante: lesiones cutáneas, oftalmológicas y vasculares. Está producido por mutaciones en el gen ABCC6 localizado en el cromosoma 16p13.1, que se expresa primariamente en el hígado, los riñones y en niveles muy bajos en los tejidos afectados clínicamente. Se han descrito más de 600 mutaciones, siendo p.R1141X y del23-29 las dos más frecuentes. Actualmente, no existe un tratamiento específico para el pseudoxantoma elástico, por lo que el diagnóstico precoz, el control multidisciplinario y las modificaciones en el estilo de vida, son importantes para disminuir su morbimortalidad. En este trabajo se presenta un caso de pseudoxantoma elástico, con compromiso cutáneo y ocular y se realiza una revisión de la literatura.

Pseudoxanthoma elasticum, also known as Groënblad-Strandberg syndrome, is a rare multi-system heritable disorder characterized by ectopic mineralization of connective tissues with clinical manifestations in the skin, eyes and vascular system. It is caused by mutations in the ABCC6 gene located in chromosome 16p13.1, which is expressed primarily in the liver and the kidney, and at very low level in tissues clinically affected. Over 600 distinct mutations have been identified so far, pR1141X and del23-29 are the most common ones. To date, there is no specific treatment for pseudoxanthoma elasticum, therefore early diagnosis, multidisciplinary control and lifestyle adjustments are very important to reduce its morbidity and mortality. A case of pseudoxanthoma elasticum in a patient with cutaneous and ocular involvement is presented along with a review of the available literature.

White Fibrous Papulosis of the Neck in a Young Woman / 대한피부과학회지

No abstract available.

Elastosis perforante serpiginosa y pseudo-pseudoxantoma elástico secundarias y tratamiento con D- penicilamina en paciente con enfermedad de Wilson / Elastosis perforans serpiginosa and pseudo-pseudoxanthomaelasticum secondary to D-penicillamine in a patient with Wilson’s disease

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.

Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency in a Patient with Crohn's Disease / 대한내과학회지

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.

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.

Pseudoxanthoma Elasticum Accompanied with Vitamin K-dependent Coagulation Factor Deficiency / 대한피부과학회지

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.

Pseudoxanthoma Elasticum Presenting as Localized Skin Lesion without Systemic Involvement / 대한피부과학회지

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.

Periumbilical Perforating Pseudoxanthoma Elasticum in a Young Male Patient / 대한피부과학회지

Periumbilical perforating pseudoxanthoma elasticum is a rare acquired disorder of connective tissue. It has been suggested that repeated traumas of pregnancy, obesity, or abdominal surgery promote localized degeneration of elastic fibers. Most cases reported in the English literature occurred in obese, middle aged, multiparous women. We describe a 29-year-old male who had two hyperpigmented plaques on the periumbilical area. He had angioid streaks, but was not obese and did not have hypertension. A skin biopsy revealed transepidermal elimination of degenerated and calcified elastic fibers, which was consistent with periumbilical perforating pseudoxanthoma elasticum. We report an interesting case of periumbilical perforating pseudoxanthoma elasticum that occurred in a young man with no known predisposing risk factors.

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.

Cervicoplastia na flacidez cutânea por síndrome de Ehlers-Danlos: relato de caso / Cervicoplasty in cutaneous laxity from Ehlers-Danlos syndrome: a case report

Introdução: A síndrome de Ehlers-Danlos é um distúrbio raro, caracterizado por anormalidades diversas na estrutura, síntese e secreção do colágeno, resultando em um quadro clínico variado, com alterações cutâneas, articulares e vasculares. Procedimentos cirúrgicos realizados nestes pacientes, muitas vezes, complicam com sangramentos de difícil controle, deiscência de suturas, friabilidade dos tecidos, hematomas recorrentes e dificuldade de cicatrização, com pobres resultados estéticos. Relato do caso: No presente relato, os autores apresentam um caso de cervicoplastia em paciente portadora da síndrome de Ehlers-Danlos, evidenciando seus resultados.

Introduction: The Ehlers-Danlos syndrome is a rare disorder characterized by multiples anomalies in collagen synthesis, structure and secretion, resulting in in numerous clinical manifestations such as cutaneous, articular and vascular abnormalities. Surgical procedures are often complicated by difficulty in control bleeding, wound dehiscence, tissue friability, recurrent hematomas and problems in wound healing, leading to poor aesthetic results. Case report: In the present report, the authors present a case of cervicoplasty in a patient with Ehlers-Danlos syndrome, exposing their results.

Alteraciones ecográficas genitourinarias en el pseudoxantoma eléstico / Genitourinary echography alterations in the pseudoxanthoma elasticum

Se presenta un paciente del sexo masculino, negro, de 13 años de edad, con diagnóstico de pseudoxantoma elástico. En el estudio ultrasonográfico renal y testicular se observaron imágenes ecorrefringentes en los riñones y testículos, que no emiten sombra acústica ni demuestran alteraciones de la función renal o del sedimento urinario. No se recogieron antecedentes familiares de lesiones cutáneas que hagan recordar la enfermedad. Estos hallazgos, tanto los renales como los testiculares, se han documentado en la literatura médica, por lo que estimamos que su divulgación es interesante, pues se ha planteado que forman parte del fenotipo de la enfermedad

This is the case of a black male sex patient aged 13 diagnosed with elastic. Renal and testicular ultrasonographic study showed echo-refractive images in testes and kidneys without neither acoustic shadow nor alterations of renal function or of the urinary sediment. There was not a family history of cutaneous lesions related with this entity. These renal and testicular findings have been documented in the medical literature, thus, authors recommended that its popularization is interesting since it has been proposed that they are part of the disease phenotype

Pseudoxanthoma elasticum: Description of a late onset case.

Pseudoxanthoma elasticum (PXE) is a genetic multisystem disorder characterized by ectopic mineralization of connective tissues with primary manifestations in the skin, retina and cardiovascular system, and a phenotypic spectrum highly variable.This article presents the case of a 46-year-old male patient with sporadic late-onset PXE, without severe systemic complications.

Periumbilical perforating pseudoxanthoma elasticum.

A 58-year-old, gravida 6, obese woman presented with a pruritic yellowish plaque around the umbilicus, which first appeared about 3 years ago. She also had flat yellow papules on the axilla and neck. After a burn from a heating device, a few perforating papules and a violaceous hue occurred on the plaque. Histological examination revealed pathological elastic fibers with a keratotic plug and perforation in the deep dermis, which was consistent with perforating pseudoxanthoma elasticum. This case indicates that perforating pseudoxanthoma elasticum, a variant of hereditary pseudoxanthoma elasticum may perforate due to mechanical factors.

A Case of Pseudoxanthoma Elasticum-like Papillary Dermal Elastolysis on the Neck of a Young Woman / 대한피부과학회지

Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-like PDE) is a rare acquired elastolytic disorder that clinically resembles pseudoxanthoma elasticum. The pathogenesis of this disease is uncertain, but it seems to be related to intrinsic aging, abnormal elastogenesis, a genetic predisposition and exposure to ultraviolet radiation. It generally develops on the sides of the neck and supraclavicular regions in elderly persons. Histologically, the characteristic features are the loss of elastic fibers in the papillary dermis and no solar elastosis. We report here on a case of PXE-like PDE in a 26-year-old female whose skin lesion developed 9 years previously. Despite the preferential occurrence at an old age, our patient was young.

Intravitreal bevacizumab in choroidal neovascularization secondary to Grõnblad-Strandberg syndrome: case report / Uso de bevacizumab intravítreo em neovascularização coroidiana secundária a síndrome de Grõnblad-Strandberg: relato de caso

Angioid streaks are commonly related to Grönblad-Strandberg syndrome, that often shows dermatological characteristics, such as pseudoxanthoma elasticum. Choroidal neovascularization is uncommon, often occurring after ocular trauma. This is a case report of the successful use of intravitreal bevacizumab for the treatment of choroidal neovascularization secondary to Grönblad-Strandberg syndrome.

As estrias angióides estão comumente relacionadas à síndrome de Grönblad-Strandberg, que se caracteriza ainda pela presença de alterações dermatológicas caracterizadas pelo pseudoxantoma elástico. A presença de neovascularização coroidiana nesses pacientes é incomum, ocorrendo geralmente após trauma ocular. Relatamos um caso de tratamento bem sucedido de neovascularização coroidiana secundária à síndrome de Grönblad-Strandberg com bevacizumab.

Pseudoxantoma elástico con complicaciones tardías y asociaciones infrecuentes / Pseudoxanthoma elasticum with late complications and unusual associations

El pseudoxantoma elástico (PXE) es un trastorno hereditario poco común del tejido conectivo, que se caracteriza por lesiones cutáneas, oculares y cardiológicas originadas por fragmentación y calcificación de las fibras elásticas. La mayoría de casos se hereda con un patrón autosómico recesivo, y, en menos proporción, autosómico dominante. El propósito del presente reporte es dar a conocer un caso de pseudoxantoma elástico con complicaciones tardías y asociaciones infrecuentes, como son una ECV (enfermedad cerebro vascular) recidivante, abortos recurrentes, la presencia de un bocio multinodular unilateral derecho, fibromatosis uterina gigante no sintomática, hipertensión arterial, y un antecedente no bien clarificado con respecto a la presencia de diabetes mellitus.

Pseudoxanthoma elasticum (PXE) is connective tissue's rare inherited disorder, characterized by skin, eye and cardiac lesions, originated by fragmentation and calcification of elastic fibers. Most cases are inherited with an autosomal recessive pattern, and in a little proportion, with an autosomal dominant pattern. This paper has the purpose of reporting a case of pseudoxanthoma elasticum with late complications and unusual associations, such as recidivated stroke, recurrent aborts, right multinodular unilateral goiter, giant uterine fibromatosis, arterial hypertension, and an unclear antecedent of diabetes mellitus.