Juvenile Pseudoxanthoma Elasticum: Recognition and Management

Hacker, Steven M.; Ramos‐Caro, Francisco A.; Beers, Betsy; Flowers, Franklin P.

doi:10.1111/j.1525-1470.1993.tb00005.x

Cited by 41 publications

(27 citation statements)

References 24 publications

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“…Although most cases of PXE are diagnosed between the ages of 10 to 15 years, cutaneous lesions have been reported in infancy (15,16). Because of subtle and asymptomatic nature of the disorder, there is an average 9-year delay of diagnosis (5,16).…”

Section: Discussionmentioning

confidence: 99%

“…Angioid streaks appear to be present in at least 85% of patients with PXE and the typical age of onset is between 15 and 25 years (16). They result from degeneration and calcification of the elastic fibres of the Cross-sectional view of the teeth on dental volumetric tomography retina leading to breaks in the Bruch's membrane.…”

Section: Discussionmentioning

confidence: 99%

“…Because of subtle and asymptomatic nature of the disorder, there is an average 9-year delay of diagnosis (5,16). Small, yellowish, flat papules develop typically on the neck, and may coalesce to form plaques giving the skin a ''gooseflesh'' or ''plucked chicken'' appearance (17).…”

Section: Discussionmentioning

confidence: 99%

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Clinical, Histological and Radiological Presentation of Root Agenesis in Pseudoxanthoma Elasticum

Borahan¹,

Ağralı²,

Kuru³

et al. 2014

MUSBED

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Pseudoksantoma elastikumda kök agenezisinin klinik, histolojik ve radyolojik olarak incelenmesi Amaç: Psödoksantoma elastikum (PXE) deri, retina ve kardiyovasküler sistemde elastik liflerin ilerleyen kalsifikasyon ve parçalanması ile karakterize, nadir görülen genetik bir hastalıktır. PXE 'nin oftalmik ve dermatolojik belirtileri ve vasküler komplikasyonları heterojendir. Sistemik düzensizliklerin yanı sıra, bir dizi belirtiler bildirilmiştir. Bu olgu raporunun amacı PXE olan bir hastada görülen kök agenezisi sunmaktır. Vaka Sunumu: PXE tanısı konmuş 22 yaşındaki bayan hasta maloklüzyonu ve estetik şikayet nedenleriyle Marmara Üniversitesi, Diş Hekimliği Fakültesi'ne başvurmuştur. Klinik muayeneye ek olarak, panoramik radyografi ve konik ışınlı bilgisayarlı tomografide kök agenezi görüntülenmiştir. Tedavi planını mekanik periodontal tedavi ve kısa aralıklarla klinik takibi oluşturmuştur. Sonuç: Radyolojik muayene, dental ve mukozal anomaliler için yararlı ve önemlidir. Sonuç olarak, bu çalışma klinisyenler tarafından dikkate alınması gereken PXE ile birlite kök agenezisi görülen bir hastanın sunumudur. Anahtar sözcükler: Psödoksantoma elastikum, kök agenezi, konik ışınlı bilgisayarlı tomografi ABS TRACT Clinical, histological and radiological presentation of root agenesis in pseudoxanthoma elasticumObjectives: Pseudoxanthoma elasticum (PXE) is a rare, genetic disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina and cardiovascular system. The ophthalmic and dermatologic expressions of PXE and vascular complications are heterogeneous. In addition to systemic disorders, a number of manifestations have been reported. The aim of this case report is to present, for the first time, root agenesis in a patient with PXE. Case Report: A 22-year-old girl diagnosed with PXE was referred to the Faculty of Dentistry, Marmara University, with a chief complaint of malocclusion and unaesthetic appearance. In addition to clinical examination, the patient was imaged using panoramic radiography and cone-beam computed tomography, which revealed root agenesis. Treatment plan consisted of mechanical periodontal therapy and recall visits with short intervals. Conclusion: Radiologic examination is useful and important for dental and mucosal abnormalities. In conclusion, this is the first report of a patient with root agenesis coexisting with PXE which should be taken into account by clinicians.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Clinical, Histological and Radiological Presentation of Root Agenesis in Pseudoxanthoma Elasticum

Borahan¹,

Ağralı²,

Kuru³

et al. 2014

MUSBED

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“…As a result of the examination of the tissue sample, our case was diagnosed as pseudoxantoma elasticum. There is one reported case in which PXE and calcinosis cutis were reported in association [8] . In cases where the clinical findings are not satisfactory; calcific elastosis, calciphylaxis, penicillamin intoxication, and solar elastosis should be considered for the histopathological differential diagnosis in light of the findings obtained from the biopsy material.…”

Section: Discussionmentioning

confidence: 99%

“…It may be seen in any human race, female/male incidence rate was reported as 2:1 [1][2][3][4][5][6][7][8] . In the present case, "angioid streaks" were determined in examination of the fundus oculi.…”

Section: Discussionmentioning

confidence: 99%

Pseudoxantoma elasticum, as a repetitive upper gastrointestinal hemorrhage cause in a pregnant woman

Göral¹

2007

WJG

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P s e u d ox a n t o m a e l a s t i c u m i s a ra re , h e re d i t a r y, multisystemic disease affecting the skin, eye, and cardiovascular system. A twenty-eight-year-old female has presented to emergency unit with the complaint of gastrointestinal hemorrhage. This patient, who had been monitored in the gastroenterology clinic more than 10 times in the past 8 years, noted a repetitive hemorrhage during her previous pregnancy in her history. The examination of the patient revealed the following signs and symptoms: atrophy in the epithelium of the retina pigment; typical angioid streaks and peau d'orange finding in the fundus; thinning of the retinal nerve fiber in OCT (optic coherence tomography); bilateral and reticular papillary lesions with yellowishcolor in the neck region (plucked chicken appearance); presence of bleeding foci in fundus; and nephrocalcinosis in kidneys. In light of these symptoms, the patient was diagnosed with pseudoxantoma elasticum. Skin biopsy confirmed the pseudoxantoma elasticum diagnose. PXE is an uncommon, hereditary disease. Early diagnosis of pseudoxantoma elasticum cases, is important for minimalizing systemic complications and informing the other family members through genetic counseling.

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Pseudoxanthoma Elasticum

Toplis

2014

Encyclopedia of Special Education

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Juvenile Pseudoxanthoma Elasticum: Recognition and Management

Cited by 41 publications

References 24 publications

Clinical, Histological and Radiological Presentation of Root Agenesis in Pseudoxanthoma Elasticum

Clinical, Histological and Radiological Presentation of Root Agenesis in Pseudoxanthoma Elasticum

Pseudoxantoma elasticum, as a repetitive upper gastrointestinal hemorrhage cause in a pregnant woman

Pseudoxanthoma Elasticum

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