Pseudoxanthoma elasticum and Elastosis perforans serpiginosa

Caro, Ivor; Sher, Mary Ann; Rippey, J. J.

doi:10.1159/000251388

Cited by 15 publications

(5 citation statements)

References 6 publications

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“…1f) [Neldner, 1988; Hu et al, 2003; Lebwohl et al, 2003]. Three to 4% of PXE patients demonstrate hyperkeratotic papules with transepithelial elimination of altered elastic fibers resembling elastosis perforans serpiginosa [Caro et al, 1975; Neldner, 1988].…”

Section: Signs Of Pxementioning

confidence: 99%

Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings

Plomp

Toonstra

Bergen

et al. 2010

American J of Med Genetics Pt A

145

132

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Pseudoxanthoma elasticum (PXE) is a systemic disorder affecting elastic tissues most markedly in skin, retina, and blood vessels. It is caused by mutations in the ABCC6 gene and is transmitted in an autosomal recessive fashion. In 1994 a new classification system for PXE was published as the result of a consensus conference. Since then the ABCC6 gene has been discovered. We propose that there is a need for a classification system incorporating all relevant systemic symptoms and signs, based on standardized clinical, histological, and molecular biological examination techniques. We re-evaluated the histopathologic PXE signs and propose a classification system with unambiguous criteria leading to a consistent diagnosis of definitive, probable, or possible PXE world-wide. We put this proposed classification forward to encourage further debate on the diagnosis of this multi-organ disorder.

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Section: Signs Of Pxementioning

confidence: 99%

Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings

Plomp

Toonstra

Bergen

et al. 2010

American J of Med Genetics Pt A

145

132

View full text Add to dashboard Cite

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“…Confusion exists whether these perforating lesions should be considered as EPS associated with PXE[ 12 13 14 ] or simply as perforating PXE. [ 15 16 17 ] The first group includes patients previously diagnosed with generalized hereditary PXE, who in the course of their disease progression develop clinical lesions that are histopathologically indistinguishable from EPS.…”

Section: Discussionmentioning

confidence: 99%

“…[ 15 16 17 ] The first group includes patients previously diagnosed with generalized hereditary PXE, who in the course of their disease progression develop clinical lesions that are histopathologically indistinguishable from EPS. [ 12 13 ] The second group is characterized by transepidermal elimination of altered elastic fibers occurring in a localized, acquired form of PXE usually in the periumbilical region, who do not develop other ocular, vascular, and visceral manifestations of hereditary PXE. [ 15 16 ] The two entities were described as distinct entities by Lund and Gilbert.…”

Section: Discussionmentioning

confidence: 99%

Elastosis perforans serpiginosa in a case of pseudoxanthoma elasticum: A rare association

Venkatachalam¹,

Chennamsetty²

2016

Indian Dermatol Online J

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Elastosis perforans serpiginosa (EPS), characterized by transepidermal elimination of fragmented elastic fibers, clinically presents as hyperkeratotic papules. EPS is classified into three types: (1) Idiopathic; (2) reactive, with associated connective tissue diseases such as pseudoxanthoma elasticum (PXE), Ehlers–Danlos syndrome, cutis laxa, Marfan syndrome, osteogenesis imperfecta, Down's syndrome; (3) the one that is induced by D-penicillamine. A rare association of EPS with PXE, which is primarily a defect of transmembrane transporter protein with accumulation of certain metabolic compounds and secondary calcification of elastic fibers has been documented in the literature. We report a case of PXE with associated lesions that were histopathologically compatible with EPS.

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“…Pseudoxanthoma elasticum (PXE) is a genetically determined disease [7,34] in which the elastic fibers, especially in some areas, exhibit progres sing mineralization [1,4,6].…”

Section: Introductionmentioning

confidence: 99%