A clinical and histological study of dental defects in a 10‐year‐old girl with pseudoxanthoma elasticum and amelogenesis imperfecta

Morrier, Jean-Jacques; Roméas, Annick; Lacan, Emilie; Farges, Jean‐Christophe

doi:10.1111/j.1365-263x.2007.00895.x

Cited by 6 publications

(12 citation statements)

References 19 publications

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“…To the best of our knowledge only six reported cases of oral PXE have been found in the English literature [7, 8, 10–12]. In this sense, it is worth reporting this case, especially to help dental practitioners in recognition of oral PXE lesions and in establishing an early and correct diagnosis of this life-threatening condition.…”

Section: Introductionmentioning

confidence: 91%

Pseudoxanthoma Elasticum of the Skin with Involvement of the Oral Cavity

Matsuo

Berbert

Mantese

et al. 2013

Case Reports in Dentistry

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Pseudoxanthoma elasticum (PXE) is an inherited multisystemic disease of elastic fibers that primarily affects the skin and retina. A case of primary PXE of the skin with late involvement of the upper lip is reported. A 55-year-old woman with a previous diagnosis of PXE affecting her skin developed a lesion on her lower lip. An oral examination identified a yellowish macule of undefined limits. A biopsy from her lip was taken and both light and transmission electron microscopies confirmed the presence of fragmented elastic fibers and calcifications on her mucosa, which was compatible with the diagnosis of oral PXE. Since the manifestation of oral PXE is rare in this region, dental practitioners must be aware that this systemic condition may produce oral lesions, which sometimes may mimic other benign diseases of the oral cavity like Fordyce granules. So, the establishment of an appropriate diagnosis is necessary to provide adequate information and attention to the patient.

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Section: Introductionmentioning

confidence: 91%

Pseudoxanthoma Elasticum of the Skin with Involvement of the Oral Cavity

Matsuo

Berbert

Mantese

et al. 2013

Case Reports in Dentistry

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“…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. Retinal haemorrhages, neovascularisation, and scarring may occur and can lead to loss of central vision (7). Our patient had also typical ocular manifestations of angioid streaks.…”

Section: Discussionmentioning

confidence: 82%

“…As the disease progresses, the affected skin may become lax and wrinkled, hanging in folds. Generalised severe laxity of the skin is rare (7). The histology of PXE present characteristic manifestations.…”

Section: Discussionmentioning

confidence: 99%

“…The skin changes are generally diagnosed from 10 to 15 years, and consist of skin papules and cutaneous laxity mainly on the neck, axillae, groin and flexural area (5). The characteristic eye signs of PXE are angioid streaks and recurrent haemorrhages in the retina which can lead to the loss of central vision (7,8). Cardiovascular manifestations are mainly intermittent claudication because of atherosclerosis, early coronary artery disease, and renovascular hypertension which can result in angina pectoris, myocardial infarction, congestive cardiac failure, renal failure, or stroke (2,7).…”

Section: Introductionmentioning

confidence: 99%

“…PXE patients may also experience bleeding complications, especially gastrointestinal haemorrhages, because of the fragility of calcified submucosal vessels. To reduce this risk, platelet inhibitors such as aspirin and nonsteroidal anti-inflammatory drugs should be avoided (7,8).…”

Section: Introductionmentioning

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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