Late‐onset focal dermal elastosis: an uncommon mimicker of pseudoxanthoma elasticum

Wang, Annie; Fonder, Margaret A.; Telang, Gladys H.; Bercovitch, Lionel; Robinson‐Bostom, Leslie

doi:10.1111/j.1600-0560.2012.01979.x

Cited by 13 publications

(7 citation statements)

References 24 publications

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“…Our patient showed skin changes in the third decade of life and light microscopy showed no increased aggregates of normal-appearing elastic fibers in the reticular dermis, as described in this condition. 13 - 14 …”

Section: Discussionmentioning

confidence: 99%

Ultrastructural aspects of pseudoxanthoma elasticum

Almeida

Jorge

et al. 2017

An. Bras. Dermatol.

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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.

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Section: Discussionmentioning

confidence: 99%

Ultrastructural aspects of pseudoxanthoma elasticum

Almeida

Jorge

et al. 2017

An. Bras. Dermatol.

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“…PXE-like macroscopic skin lesions are also observed after chronic D-penicillamine therapy [121] and in “acquired PXE” (perforating calcific elastosis, a non-inherited skin disease mainly affecting the peri-umbilical region in multiparous women) [122]. Some of the features of PXE can arise in rare dermatological disease such as late-onset focal dermal elastosis [123], papillary dermal elastolysis [124], mid-dermal elastolysis [125] and PXE-like skin manifestations with retinitis pigmentosa [78]. As mentioned above, angioid streaks can very occasionally be observed in Ehlers-Danlos syndrome.…”

Section: Differential Diagnosismentioning

confidence: 99%

Pseudoxanthoma elasticum

Germain

2017

Orphanet J Rare Dis

144

147

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Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight female predominance. The first clinical sign of PXE is almost always small yellow papules on the nape and sides of the neck and in flexural areas. The papules coalesce, and the skin becomes loose and wrinkled. The mid-dermal elastic fibers are short, fragmented, clumped and calcified. Dystrophic calcification of Bruch’s membrane, revealed by angioid streaks, may trigger choroidal neovascularization and, ultimately, loss of central vision and blindness in late-stage disease. Lesions in small and medium-sized artery walls may result in intermittent claudication and peripheral artery disease. Cardiac complications (myocardial infarction, angina pectoris) are thought to be relatively rare but merit thorough investigation. Ischemic strokes have been reported. PXE is a metabolic disease in which circulating levels of an anti-mineralization factor are low. There is good evidence to suggest that the factor is inorganic pyrophosphate (PPi), and that the circulating low levels of PPi and decreased PPi/Pi ratio result from the lack of ATP release by hepatocytes harboring the mutant ABCC6 protein. However, the substrate(s) bound, transported or modulated by the ABCC6 protein remain unknown. More than 300 sequence variants of the ABCC6 gene have been identified. There is no cure for PXE; the main symptomatic treatments are vascular endothelial growth factor inhibitor therapy (for ophthalmic manifestations), lifestyle, lipid-lowering and dietary measures (for reducing vascular risk factors), and vascular surgery (for severe cardiovascular manifestations). Future treatment options may include gene therapy/editing and pharmacologic chaperone therapy.

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“…This supports theories which state that ultraviolet radiation is an independent factor for disease pathogenicity. [47] On the other hand, our presentation of three cases of postmenopausal female patients in their 7 th to 8 th decades of life suggests that aging is a potential etiological factor. All cases reported a negative family history of similar condition in other family members.…”

Section: Discussionmentioning

confidence: 94%

“…Marked reduction in the age-related growth-regulating gene activity seems to be an attractive explanation postulated by some authors. [710]…”

Section: Discussionmentioning

confidence: 99%

A case series of pseudoxanthoma elasticum-like disorders

2019

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Pseudoxanthoma elasticum (PXE)-like papillary dermal elastolysis and focal dermal elastosis are acquired noninflammatory elastic tissue disorders. The skin lesions clinically resemble PXE without systemic involvement. We report the clinicopathological features of five cases and discuss the pathogenesis and differential diagnosis. Increased awareness of this newly described entity will broaden the differential diagnosis for dermatologists when encountering a similar case scenario.

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Late‐onset focal dermal elastosis: an uncommon mimicker of pseudoxanthoma elasticum

Cited by 13 publications

References 24 publications

Ultrastructural aspects of pseudoxanthoma elasticum

Ultrastructural aspects of pseudoxanthoma elasticum

Pseudoxanthoma elasticum

A case series of pseudoxanthoma elasticum-like disorders

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