Two types of autosomal recessive pseudoxanthoma elasticum

Pope, F M

doi:10.1001/archderm.110.2.209

Cited by 27 publications

(20 citation statements)

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“…1,36,37 Recent studies have mapped the PXE locus to chromosome 16p13.1. [38][39][40][41] The pathogenetic mutation is believed to affect the MRP6 gene that encodes a cellular transmembrane protein, associated with multidrug resistance.…”

Section: Pathogenesis and Geneticsmentioning

confidence: 99%

Elastic tissue abnormalities resembling pseudoxanthoma elasticum in β thalassemia and the sickling syndromes

Aessopos

Farmakis

Loukopoulos

2002

Blood

139

124

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The development of clinical and histopathologic manifestations of a diffuse elastic tissue defect, resembling inherited pseudoxanthoma elasticum (PXE), has been encountered with a notable frequency in patients with ␤ thalassemia, sickle cell disease, and sickle thalassemia. The PXE-like clinical syndrome, consisting of skin, ocular, and vascular manifestations, has a variable severity in these hemoglobinopathies and it is age-dependent, with a generally late onset, after the second decade of life. The defect is believed to be acquired rather than inherited and related to the consequences of the primary disease. The high prevalence of the findings implicates the elastic tissue injury as one of the main comorbid abnormalities encountered in ␤ thalassemia and the sickling syndromes. In these patients a number of complications, sometimes serious, has been recognized to be related to ocular and vascular elastic tissue defects. Because several organ systems are involved, each medical specialty should be aware of the phenomenon. This coexistence, on the other hand, introduces a novel pathogenetic aspect of PXE and an important research challenge. (Blood. 2002;99:30-35)

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Section: Pathogenesis and Geneticsmentioning

confidence: 99%

Elastic tissue abnormalities resembling pseudoxanthoma elasticum in β thalassemia and the sickling syndromes

Aessopos

Farmakis

Loukopoulos

2002

Blood

139

124

View full text Add to dashboard Cite

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“…Autosomal recessive pseudoxanthoma elasticum also has two types: recessive type I has a flexurally distributed rash, moderately severe retinal disease, and a particular predisposition to gastrointestinal bleeding, and recessive type II is much rarer and affects the entire skin which is loose-fitting, lax, and extensively infiltrated with degenerated elastic fibers [3].…”

Section: Discussionmentioning

confidence: 99%

“…Pseudoxanthoma elasticum can be transmitted as an autosomal dominant trait (Type I and Type II) or an autosomal recessive trait (Type I and Type II), and the incidence is about 1/160000 persons, with a female predilection of 2.3:1 ratio [2,3].…”

Section: Introductionmentioning

confidence: 99%

Pseudoxanthoma Elasticum: Case Report

Elgendy¹,

Alshawadfy²,

Ali³

et al. 2016

J Clin Exp Dermatol Res

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Pseudoxanthoma elasticum (PXE) is a hereditary disorder that mainly involves the skin, eyes, and cardiovascular system.We reported a case of pseudoxanthoma elasticum with involvement of neck, axillae, abdomen and thighs, together with angioid streaking of fundi. Skin biopsy specimen was taken and was stained with hematoxylin and eosin (H and E) that revealed fragmentation of the elastic fibers. These features were suggestive of histopathological diagnosis of PXE.We have reviewed other published reports to obtain a better understanding of the genetics, histopathology, vascular and ophthalmological manifestations of pseudoxanthoma elasticum.

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“…Two autosomal dominant (Pope, 1974a) and two autosomal recessive types (Pope, 1974b) (Penttinen et al, 1977). Further studies are needed.…”

Section: Eds Type V (Lysyl Oxidase Deficiency)mentioning

confidence: 99%