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Romanian Journal of Morphology and... 2008Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder of connective tissue, characterized by elastic fibers mineralization and fragmentation, and affects the...
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder of connective tissue, characterized by elastic fibers mineralization and fragmentation, and affects the skin, eyes, cardiovascular system, and gastrointestinal system. PXE is caused by mutations in the ABCC6 gene, located on chromosome 16p13.1. We investigated clinical and laboratory three patients with pseudoxanthoma elasticum. All the patients present on dermatological examination yellowish papules, located especially on the neck and axillary area. In case no. 2 the patient presents "cutis laxa" in the axillary area. In case no. 3 the patient presents hyperpigmented spot on right forearm and another maculo-pigmented oval spot located at the base of the left posterior hemithorax. In two cases, the ophthalmologic examination shows angioid streaks. The modifications of elastic fibers (thickened or fragmented) are present in all cases.
Topics: Adult; Elastic Tissue; Female; Humans; Pseudoxanthoma Elasticum
PubMed: 19050808
DOI: No ID Found -
Journal of Molecular Medicine (Berlin,... 2000
Review
Topics: ATP-Binding Cassette Transporters; Chromosomes, Human, Pair 16; Eye; Humans; Multidrug Resistance-Associated Proteins; Pseudoxanthoma Elasticum
PubMed: 10954194
DOI: 10.1007/s001090000119 -
Giornale Italiano Di Dermatologia E... Aug 2020
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Female; Humans; Italy; Male; Middle Aged; Pseudoxanthoma Elasticum; Young Adult
PubMed: 29963809
DOI: 10.23736/S0392-0488.18.06076-5 -
Clinics in Dermatology 1988
Topics: Adolescent; Adult; Antacids; Calcinosis; Calcium; Cardiovascular Diseases; Child; Elastic Tissue; Female; Genes, Dominant; Genes, Recessive; Genetic Counseling; Humans; Male; Middle Aged; Prognosis; Pseudoxanthoma Elasticum; Retinal Diseases; Skin; Vitamin E
PubMed: 3359381
DOI: 10.1016/0738-081x(88)90003-x -
International Journal of Dermatology Mar 1988
Topics: Adolescent; Adult; Calcium, Dietary; Child; Female; Genetic Counseling; Humans; Physical Exertion; Pregnancy; Prognosis; Pseudoxanthoma Elasticum; Smoking; Sports
PubMed: 3360560
DOI: 10.1111/j.1365-4362.1988.tb01280.x -
Postgraduate Medical Journal Feb 1970Eight cases of pseudoxanthoma elasticum seen in a Medical Unit in Singapore are described. Of these six belonged to one family. The clinical presentations of these...
Eight cases of pseudoxanthoma elasticum seen in a Medical Unit in Singapore are described. Of these six belonged to one family. The clinical presentations of these cases, especially the first case who was a diagnostic problem for 5 years, are described. Transmission in this family is autosomal-recessive. Eye changes were absent. Skin lesions were minimal and the axillary folds were more involved than the skin of the neck. Of the eight cases, three were asymptomatic except for cutaneous lesions, three had suffered a haemetemesis and four a haemoptysis, while three had mental changes, and two had cerebrovascular involvement. Case 1 had in addition, bleeding from the nose, urinary tract and uterus. She also had a fatty liver, peripheral neuropathy and hysterical fits. Only one case presented as a cosmetic problem. The pathogenesis of PXE is discussed; the primary defect is believed to be in the elastic and not the collagenous tissue.
Topics: Adult; Aged; Female; Genes, Recessive; Hemorrhage; Humans; Male; Mental Disorders; Middle Aged; Pseudoxanthoma Elasticum; Vascular Diseases
PubMed: 5416513
DOI: 10.1136/pgmj.46.532.97 -
American Journal of Medical Genetics.... Jul 2011Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement, and... (Review)
Review
Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement, and cardiovascular problems. The classic forms of PXE are due to loss-of-function mutations in the ABCC6 gene, which encodes ABCC6, a putative transmembrane efflux transporter expressed primarily in the liver. While considerable progress has recently been made in understanding the molecular genetics and pathomechanisms of PXE, no effective or specific treatment is currently available for this disorder. PXE International, the premiere patient advocacy organization, organized a workshop in November 2010 to assess the current state of diagnostics and research to develop an agenda towards treatment of PXE. This overview summarizes the progress in PXE research, with emphasis on molecular therapies for this, currently intractable, disorder.
Topics: Animals; Disease Models, Animal; Genetic Heterogeneity; Humans; Molecular Targeted Therapy; Multidrug Resistance-Associated Proteins; Mutation; Pseudoxanthoma Elasticum; Translational Research, Biomedical
PubMed: 21671388
DOI: 10.1002/ajmg.a.34067 -
The American Journal of Dermatopathology Jun 2017
Topics: Aged; Biopsy, Needle; Diagnosis, Differential; Exanthema; Female; Humans; Immunohistochemistry; Pseudoxanthoma Elasticum; Rare Diseases; Severity of Illness Index; Spain
PubMed: 28525425
DOI: 10.1097/DAD.0000000000000490 -
Acta Clinica Belgica 2000An 64-year-old woman had pseudoxanthoma elasticum (PXE) with the characteristic skin and oculair findings. She had no associated systemic systems and no family history...
An 64-year-old woman had pseudoxanthoma elasticum (PXE) with the characteristic skin and oculair findings. She had no associated systemic systems and no family history of PXE. The case-report is reviewed with regard to etiology, clinical features, diagnosis, inheritance and, particularly, management.
Topics: Female; Humans; Middle Aged; Pseudoxanthoma Elasticum
PubMed: 10981325
DOI: 10.1080/17843286.2000.11754289 -
The Australasian Journal of Dermatology May 2019
Topics: Adult; DNA Mutational Analysis; Dermoscopy; Female; Humans; Multidrug Resistance-Associated Proteins; Mutation; Pseudoxanthoma Elasticum
PubMed: 30229859
DOI: 10.1111/ajd.12930