Localized acquired cutaneous pseudoxanthoma elasticum

Neidner, Kenneth H.; Martínez-Hernández, Antonio

doi:10.1016/s0190-9622(79)80096-1

Cited by 47 publications

(28 citation statements)

References 12 publications

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“…Several types of localized PXE have been reported. According to Neldner and MartinezHernandez 4 , localized acquired cutaneous PXE is a non-heritable form of PXE that is nearly identical to the heritable form on the basis of the cutaneous appearance of the individual lesions, light microscopic criteria, and ultrastructural criteria. Localized acquired cutaneous PXE is distinguished from the more common syndrome by a late onset, absence of flexural clinical lesions, absence of retinopathy, a negative family history, and absence of the other expected systemic manifestations.…”

Section: Discussionmentioning

confidence: 99%

“…It is characterized by progressive calcification and degeneration of elastic fibers resulting in a diagnostic pathologic picture referred to as "elastorrhexia" [1][2][3] . Skin lesions almost always begin on the lateral portion of the neck during early childhood and remain confined to the flexural area, except in the most advanced cases, in which the trunk, face, and extremities may be involved 4 . However, mild forms of the disorder can easily be overlooked 2 .…”

Section: Introductionmentioning

confidence: 99%

“…To date, the majority of reports have focused on the typical clinical symptoms of PXE, the associated systemic abnormalities of PXE, or perforating PXE. Localized, acquired cutaneous PXE has been proposed as a non-heritable form that is nearly identical to the heritable form 4 . Recently, a previously undescribed cutaneous finding (mental creases) in a patient with PXE was reported 5 .…”

Section: Introductionmentioning

confidence: 99%

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Localized Pseudoxanthoma Elasticum-like Changes on the Chin

Lee

Kim

2008

Ann Dermatol

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Department of Dermatology, Ajou University School of Medicine, Suwon, KoreaPseudoxanthoma elasticum (PXE) is a rare, inherited, multisystem disorder characterized by progressive calcification and fragmentation of elastic fibers. Typically, small, yellowish papules are located on the neck and flexural areas; however, localized acquired cutaneous PXE has been proposed as a non-heritable form of the disorder. We report a patient who had normal appearing skin on the chin with an itching sensation and had PXE-like changes by skin biopsy. (Ann Dermatol (Seoul) 20(4) 250∼253, 2008)

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Localized Pseudoxanthoma Elasticum-like Changes on the Chin

Lee

Kim

2008

Ann Dermatol

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“…Among the acquired conditions, PXE-like cutaneous changes may be associated with multiple pregnancy, longstanding end-stage renal disease (Lewis et al, 2006), L-tryptophan induced eosinophilia myalgia syndrome (Mainetti et al, 1991), and amyloid elastosis (Sepp et al, 1990) as well as after D-penicillamine treatment, cutaneous exposure to calcium salts (Neldner & Martinez-Hernandez, 1979), and salpeter (Nielsen et al, 1978). In these cases, mineralization of skin may result from metabolic abnormalities affecting calcium and/or phosphate homeostasis or from direct deposition of mineral salts on collagen or elastic fibres.…”

Section: Acquired Conditionsmentioning

confidence: 99%

The Multifaceted Complexity of Genetic Diseases: A Lesson from Pseudoxanthoma Elasticum

Quaglino¹,

Boraldi²,

Annovi³

et al. 2011

Advances in the Study of Genetic Disorders

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“…Both angioid streaks and "Peau d' orange" are usually bilateral lesions. Practically all PXE patients develop angioid steaks within 20 years after the diagnosis [9]. Choroidal neovascularisation is the most serious complication of angioid streaks and occurs in 72-86 % of cases [10].…”

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confidence: 99%

A case of pseudoxantoma elasticum

Demirseren

Uğurlu²,

Arman³

et al. 2012

j ocul biol dis inform

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Pseudoxanthoma elasticum (PXE) is a rare, genetic, multisystem connective tissue disorder primarily affecting the skin, eyes, and the cardiovascular system (CVS) [1,2]. PXE is characterized by progressive pathologic calcification and fragmentation of the elastic tissue in the affected organs. PXE appears to be present in all over the world's populations. In different reports, the prevalence is given to range between 1:25,000 and 1:100,000 [3]. Due to lack of adequate knowledge among patients and physicians, delay in diagnosis, and genetic heterogeneity, the exact prevalence of PXE might be underestimated. Although autosomal recessive inheritance patterns have mainly been reported, some families show autosomal dominant inheritance and some cases are sporadic without family history [4]. In most cases, the skin is the first organ system affected. Skin changes are usually detected in the second or third decade [5]. The affected skin eventually becomes lax, redundant, and inelastic. PXE also affects ocular fundus due to pathologic changes in Bruch's membrane. Early ocular findings are pigment irregularities of the temporal fundus called "Peau d' orange", angioid streaks due to breaks of Bruch's membrane and later choroidal neovascularisation and disciform scars [1]. CVS manifestations of PXE include arterial hypertension, peripheral arterial disease, angina pectoris, restrictive cardiomyopathy, mitral valve prolapse, and sudden cardiac death [3,6].A 61-year-old female patient was referred to our dermatology outpatient clinic by the ophthalmology clinic because of angioid streaks detected on fundus examination. Patient did not have any subjective complaints. She had had history of diabetes for 11 years and coronary artery disease for 10 years. On dermatologic examination, we detected yellow cobblestone like lesions with lax, redundant, and inelastic skin over the anterior and lateral parts of the neck and axilla (Fig. 1). She had not consulted any dermatologist before because of these lesions.Patient had applied to the ophthalmology outpatient clinic because of visual impairment. Best corrected visual acuities were 0.2/0.2 and intraocular pressures were 15/15 mmHg respectively for the right and left eyes. Anterior segments were normal. Fundoscopy revealed bilateral angioid streaks originating from the optic disk, radiating outwards especially under the macula as grayish-brownish irregular lines (Figs. 2 and 3). Optical coherence tomography examination revealed increased reflectivity at the level of retinal pigment epithelium-Bruch's membrane-choroid complex. Biopsy taken from the affected skin showed calcified and fragmented elastic fibers in the middle and lower dermis and confirmed the diagnosis. PXE is a rare connective tissue disorder leading to a broad range of complications including mainly the skin, eyes, and CVS [1]. Clinical findings are due to pathologic calcification and fragmentation of elastic tissue in the dermis of the skin, Bruch's membrane of the retina, and intima of the vascular arteries [5]. These...

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Localized acquired cutaneous pseudoxanthoma elasticum

Cited by 47 publications

References 12 publications

Localized Pseudoxanthoma Elasticum-like Changes on the Chin

Localized Pseudoxanthoma Elasticum-like Changes on the Chin

The Multifaceted Complexity of Genetic Diseases: A Lesson from Pseudoxanthoma Elasticum

A case of pseudoxantoma elasticum

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