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At least 19 recordsLinked to original sources
PubMed1979

Chequered localized pseudoxanthoma elasticum: a variety of Christensen's exogenous pseudoxanthoma elasticum?

We report a very curious case of a condition which has never been described before. Its features are comparable but not quite identical with those of Christensen's saltpetre-induced PXE which the author considers to be an exogenous variety of pseudoxanthoma elasticum. Since our case appeared spontaneously without any accidental episode we prefer to designate it under the name 'localized PXE'. The chequered appearance of the lesions seems to be the characteristic feature of the disease.

Adult↗
PubMed2002

Pseudoxanthoma elasticum masquerading as Sjögren's syndrome.

Pseudoxanthoma elasticum is an inherited disorder of abnormal calcification of elastic fibers in the skin, retina, and cardiovascular system. Herein, we report a patient who had dry eyes and mouth, keratoconjunctivitis sicca, and a low titer ANA at presentation. A lip biopsy was performed to confirm a clinical suspicion of Sjögren's syndrome; however, the histologic findings were diagnostic of pseudoxanthoma elasticum. Antibodies to Ro and La were negative. Subsequently, she was found to have skin and eye findings consistent with pseudoxanthoma elasticum. Although a causal relationship between keratoconjunctivitis sicca and pseudoxanthoma elasticum is not proven, salivary gland involvement with pseudoxanthoma elasticum may explain this patient's symptoms. Physicians should consider the diagnosis of pseudoxanthoma elasticum in patients who present with sicca symptoms without obvious cause, especially if cutaneous or ophthalmologic abnormalities, or both, are present. Careful monitoring for associated problems is needed as soon as pseudoxanthoma elasticum is diagnosed.

Journal Article↗
PubMedDate not supplied

Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update.

Pseudoxanthoma elasticum is an autosomally inherited disorder that is associated with the accumulation of mineralized and fragmented elastic fibers in the skin, Bruch's membrane in the retina, and vessel walls. The ophthalmic and dermatologic expression of pseudoxanthoma elasticum and its vascular complications are heterogeneous, with considerable variation in phenotype, progression, and mode of inheritance. Using linkage analysis and mutation detection techniques, mutations in the ABCC6 gene were recently implicated in the etiology of pseudoxanthoma elasticum. ABCC6 encodes the sixth member of the ATP-binding cassette transporter and multidrug resistance protein family (MRP6). In humans, this transmembrane protein is highly expressed in the liver and kidney. Lower expression was found in tissues affected by pseudoxanthoma elasticum, including skin, retina, and vessel walls. So far, the substrates transported by the ABCC6 protein and its physiological role in the etiology of pseudoxanthoma elasticum are not known. A functional transport study of rat MRP6 suggests that small peptides such as the endothelin receptor antagonist BQ123 are transported by MRP6. Similar molecules transported by ABCC6 in humans may be essential for extracellular matrix deposition or turnover of connective tissue at specific sites in the body. One of these sites is Bruch's membrane. This review is an update on etiology of pseudoxanthoma elasticum, including its clinical and genetic features, pathogenesis, and biomolecular basis.

Animals↗
PubMed2006

Fundus autofluorescence in patients with pseudoxanthoma elasticum.

PURPOSE: To evaluate the autofluorescence findings of patients with pseudoxanthoma elasticum, a disease resulting from a defect in a reputed transport protein encoded by the gene adenosine triphosphate-binding cassette subtype C number 6. DESIGN: Observational case series. METHODS: Color, red-free monochromatic, and autofluorescence photography and fluorescein angiography of patients with pseudoxanthoma elasticum seen in a referral practice were evaluated. MAIN OUTCOME MEASURES: Cataloging of the abnormalities as detected by autofluorescence photography. RESULTS: The 8 subjects ranged in age from 26 to 60 years (mean, 55+/-12), and their best-corrected visual acuity ranged from 20/20 to 5/400 (mean, 20/50). Of the 16 eyes of the 8 patients, all had abnormalities typical of pseudoxanthoma elasticum, including angioid streaks in 14, peau d'orange in 4, and choroidal neovascularization in 11. Angioid streaks appeared as hypoautofluorescent fissures, sometimes showing expansion of the hypoautofluorescence suggestive of retinal pigment epithelium (RPE) absence or atrophy. Peau d'orange had a stippled appearance of autofluorescence, and drusen of the optic nerve appeared as hyperautofluorescent bodies. In addition to the expansion of RPE atrophy around angioid streaks, 3 additional configurations of RPE atrophy were recognized as RPE rips in 6 eyes, multilobular areas of atrophy in 9 eyes, and broad areas of poorly demarcated atrophy in 5 eyes. Some eyes had more than one manifestation of RPE atrophy, but the latter 3 types of atrophy occurred in eyes with, but not necessary contiguous to, concurrent choroidal neovascularization. CONCLUSIONS: Autofluorescence photography demonstrated that patients with pseudoxanthoma elasticum have more widespread areas of RPE disturbance, particularly atrophy, than what is detectable by other means of ocular imaging, which suggests that the RPE disturbance may play a role in the pathogenesis of visual loss in patients with pseudoxanthoma elasticum.

Adult↗
PubMed1991

Disk drusen and angioid streaks in pseudoxanthoma elasticum.

Visual field loss secondary to optic disk drusen became evident before the development of angioid streaks in a patient with pseudoxanthoma elasticum. The incidence of optic disk drusen in cases of pseudoxanthoma elasticum is 20 to 50 times greater than that in the healthy population. We postulate that the abnormal aggregation of macromolecules with a high affinity for calcium (resulting in abnormalities in elastin in cases of pseudoxanthoma elasticum) also develops at the cribriform plate, disrupting axonal flow and leading to disk drusen formation. Pseudoxanthoma elasticum is associated with marked cardiovascular and gastrointestinal morbidity. Moreover, macular hemorrhage and precipitation of angioid streaks have frequently been noted after trauma. Prompt diagnosis of pseudoxanthoma elasticum will allow necessary prophylaxis and must be considered in patients with optic disk drusen.

Adult↗
PubMed2004

[Early pseudoxanthoma elasticum with severe cardiovascular involvement].

INTRODUCTION: Pseudoxanthoma elasticum is a rare inherited connective disorder, characterized by elastic tIssue degeneration. The onset of the symptoms usually occurs within the second decade of life. CASE REPORT: We describe the case of a 15 year-old boy, born to consanguin parents, who presented characteristic cutaneous signs of pseudoxanthoma elasticum. The patient had also presented with severe cardiovascular involvement of early onset, at the age of 6 months. The latter included episodes of ischemic stroke, arterial hypertension, thrombosis of the left iliac and carotid arteries and cardiomegaly. His sister suffered from isolated cutaneous involvement. Diagnosis of pseudoxanthoma elasticum was confirmed on the histology of the skin and molecular analysis in our patient and in his sister revealed the same homozygote mutation. DISCUSSION: The organs most commonly affected by pseudoxanthoma elasticum are the skin, eyes and vascular system. The cutaneous lesions are characteristic and usually appear around the age of 13. Ophthalmological involvement is frequent. Angioid bands are the most typical lesions; the occur between the ages of 14 and 25. Survival depends on the vascular damage. Conversely to our case report, it usually appears later in life, during the third decade. Arterial hypertension and intestinal bleeding have also been described. The cardiac involvement in our patient is rare. This boy and his sister presented with the same homozygote mutation. Such a major intra-familial clinical variability emphasizes the hypothesis of the absence of any genotype-phenotype relationship in pseudoxanthoma elasticum.

Adolescent↗
PubMed1987

Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions.

Pseudoxanthoma elasticum is a disorder of connective tissue that is associated with numerous systemic complications, including accelerated atherosclerosis, gastrointestinal bleeding, angioid streaks in the ocular fundus, and blindness. Diagnosis of the disease is important because many of its complications can be prevented and genetic counseling can be offered to family members of affected patients. The purpose of this study was to examine the usefulness of scar biopsy in establishing a diagnosis of pseudoxanthoma elasticum in patients with angioid streaks but without characteristic skin lesions. Ten patients with angioid streaks but without cutaneous findings indicative of pseudoxanthoma elasticum were evaluated by biopsy of scars and flexural skin. The biopsy specimens were compared with those from unaffected controls. In 6 of the 10 patients, scar biopsies showed fragmentation and clumping of elastic tissue in the deep dermis. Three patients also had these histologic features of pseudoxanthoma elasticum in biopsy specimens of flexural skin that appeared to be normal. We conclude that biopsies of scars in randomly chosen sites may be useful when pseudoxanthoma elasticum is suspected despite the absence of typical skin lesions.

Adult↗
PubMed1996

[Generalized pseudoxanthoma elasticum combined with vitamin K dependent clotting factors deficiency].

INTRODUCTION: Pseudoxanthoma elasticum is a connective tissue disease currently classed in 4 forms. Two forms are inherited via dominant autosomal transmission and the other two via recessive autosomal transmission. The generalized form of pseudoxanthoma elasticum is the most uncommon form and corresponds to recessive type II. Clinical manifestations include the typical generalized "peau d'orange" skin associated with hyperlaxity of the skin. Usually, there is no systemic manifestation. CASE REPORT: We report a case of a patient with generalized pseudoxanthoma elasticum associated with deficiency of vitamin-K dependent factors II, VII, IX, and X. A search for other causes of vitamin-K dependent factor deficiency was negative. DISCUSSION: The association of generalized pseudoxanthoma elasticum with deficiency of vitamin-K dependent clotting factors has been reported previously in very rare cases and is probably not fortuitous. It could led to the definition of a sub-group of recessive autosomal pseudoxanthoma elasticum.

Adult↗
PubMed1986

Glycosaminoglycans of skin and urine in pseudoxanthoma elasticum: evidence for chondroitin 6-sulfate alteration.

Abnormally elevated hyaluronic acid and dermatan sulfate were isolated from lesional skin of a patient with severe pseudoxanthoma elasticum. These glycosaminoglycans (estimated as uronic acid) surpassed the normal controls by 33.6 and 4.8 magnitudes, respectively. Urine chondroitin 6-sulfate of the same patient moved faster by electrophoresis on cellulose acetate than its counterpart isolated from urine of another four patients or from the normal controls. Hyaluronic acid and chondroitin 6-sulfate exceeded their counterparts in normal urine by 2- to 10- and 4- to 18-folds, respectively. These increments correlated with the pseudoxanthoma elasticum severity in three of the five patients studied. The data showed: the first conclusive evidence that dermatan sulfate increased in lesional skin of a patient, with severe pseudoxanthoma elasticum, who also had considerably augmented HA, alteration of the same patient's urine chondroitin 6-sulfate, and diversified urine glycosaminoglycans in pseudoxanthoma elasticum.

Adult↗
PubMed1988

Periumbilical perforating pseudoxanthoma elasticum.

Perforating pseudoxanthoma elasticum is a rare disorder that can occur in skin lesions associated with hereditary pseudoxanthoma elasticum and as a localized acquired cutaneous form. The localized lesion usually occurs in a periumbilical location in obese, multiparous black women. Here we report an additional case of periumbilical perforating pseudoxanthoma elasticum and discuss its potential relationship to systemic disease (hereditary pseudoxanthoma elasticum).

Aged↗
PubMed1999

Recent advances in gene mapping of skin diseases. Pseudoxanthoma elasticum: A satisfying sibling study.

BACKGROUND: A review of the recent progress made in mapping of the hereditary skin disease pseudoxanthoma elasticum is presented. METHODS: Affected sib pair methods, parametric linkage analysis, and linkage heterogeneity tests are reviewed as applied to the effort to identify the location of the pseudoxanthoma elasticum gene. RESULTS: Families segregating either autosomal dominant or autosomal recessive pseudoxanthoma elasticum mapped to chromosome 16p13.1. CONCLUSION: There is a gene for pseudoxanthoma elasticum on chromosome 16p. The underlying molecular defect remains to be elucidated.

Chromosome Mapping↗
PubMed2000

Pseudoxanthoma elasticum and pregnancy: a case report.

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare hereditary disease characterised by systemic degeneration of elastic tissue. Calcification of elastic fibres seen histologically is pathognomonic for the disorder. Most pseudoxanthoma elasticum patients show no serious complications during pregnancy. CASE: We report a case of a 29-year-old white woman with pseudoxanthoma elasticum, who delivered a healthy infant at the 35th week by cesarean section after an uneventful pregnancy. Sonographic and histological placental findings are described. CONCLUSION: Pregnancy in a patient with pseudoxanthoma elasticum presents some problems such as the evolution of the disease in the soon to be mother and the influence of the disease on the pregnancy. In our case there were no fetal-maternal complications related to the disease except skin lesion aggravation.

Adult↗
PubMed1989

Management of upper gastrointestinal hemorrhage in patients with pseudoxanthoma elasticum.

Pseudoxanthoma elasticum is a rare inherited connective tissue disorder, which exhibits genetic heterogeneity. It is characterized by elastic tissue degeneration involving many organ systems, with typical cutaneous, ocular, arterial, and gastrointestinal manifestations. Upper gastrointestinal tract hemorrhage occurs in 13% of patients with pseudoxanthoma elasticum and is often resistant to conventional methods of treatment. A case report involving gastric hemorrhage in a patient with pseudoxanthoma elasticum is presented. The characteristics of pseudoxanthoma elasticum are reviewed, and the management of upper gastrointestinal tract hemorrhage in these patients is discussed.

Adult↗
PubMed1996

Pseudoxanthoma elasticum and pregnancy.

Reports of complications of pseudoxanthoma elasticum occurring during pregnancy have dissuaded some women with the disorder from attempting to conceive for fear of exacerbating the disease. The actual risks of serious complications during pregnancy, however, may be overstated. We report a 40-year-old woman with pseudoxanthoma elasticum who delivered a healthy male infant after an uneventful pregnancy. At the time of delivery, the placenta was noted to be heavily calcified. The effects of pregnancy on pseudoxanthoma elasticum and the effects of maternal pseudoxanthoma elasticum on a developing fetus are reviewed, with a review of the relevant medical literature.

Adult↗
PubMedDate not supplied

Acne-like eruption induced by pseudoxanthoma elasticum: effectiveness of liquid nitrogen cryotherapy.

We report a case of pseudoxanthoma elasticum associated with an acneiform eruption involving the cervical area. When she was 16 years-old our patient was diagnosed with pseudoxanthoma elasticum, affecting the skin (flexural, cervical and neck areas) and the eyes (bilateral ocular angioid streaks). Ten years later, acneiform lesions (inflammatory and comedones) developed on these lesions: - the inflammatory lesions were characterized by phagocytosis of pathological elastic fibers inducing granuloma - the histological aspects of pseudoxanthoma elasticum were observed around large comedones. This association is rarely reported and we think that atypical, cervical acneiform lesions may be an indication of pseudoxanthoma elasticum. The mechanism for this association is not clearly understood. In our case, Von-Kossa staining was negative for the granulomatous lesions and positive for the comedones: calcification could protect elastopathic fibers from phagocytosis. Treatment is difficult: anti-acneic treatments are not effective except for tetracylines, the anti-inflammatory effects of which can improve granulomatous lesions. As its efficacy has been reported in elastosis perforans serpiginosa, we used liquid nitrogen cryotherapy on the inflammatory lesions with good results (separation of epidermis from dermis perhaps promoting transepithelial elimination of the abnormal dermal elastic tissue).

Acne Vulgaris↗
PubMed2001

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

Pseudoxanthoma elasticum (PXE) is a mendelian disorder characterized by calcification of elastic fibers in skin, arteries, and retina. It results in dermal lesions, arterial insufficiency and retinal hemorrhages, leading to macular degeneration. PXE is transmitted either as an autosomal dominant or recessive trait and several sporadic cases have been observed. Mutations in the ABCC6 gene have been identified very recently in patients. Here, we report on a large Italian family affected by pseudoxanthoma elasticum for which linkage analysis had pointed to a region encompassing markers D16S3069-D16S405-D16S3103; hemizygosity of marker D16S405 allowed us to detect a submicroscopic deletion of at least 900 kb involving ABCC6, ABCC1, and MYH11. Mutation analysis on the other allele of the family, as well as on two additional sporadic cases, revealed nonsense (Y227X, R518X, R1164X) and frame-shift (c.960delC) mutations in ABCC6 (MRP6) further confirming the role of this multi-drug resistance gene in the etiology of pseudoxanthoma elasticum. Furthermore, clinical re-examination of members of the family harboring the deletion led to the detection of additional features, potentially caused by the deletion of the MYH11 gene. In the course of the analysis five nonpathogenic variants were found in ABCC6: 1233T>C, 1245G>A, 1838 T>G (V614A), 1890C>G, and 3506+83C>A. Hum Mutat 18:85, 2001.

Adult↗
PubMed1997

[Pseudoxanthoma elasticum. Skin changes as a marker of systemic illness].

Angioid streaks were diagnosed in a 42-year-old woman. Since age 20 she had developed circumscribed atrophic yellow-grey lesions on her neck, axillae and other flexural sites. In spite of highly characteristic skin changes, the diagnosis of pseudoxanthoma elasticum was first confirmed by a biopsy from lesional skin 22 years after the disease onset. Based on the present case and an analysis of the recent literature, the findings characteristic for pseudoxanthoma elasticum in the skin, eyes and cardiovascular system are delineated, the differential diagnosis of the skin lesions, as well as the pathogenesis and the prognosis are discussed, and the new classification of pseudoxanthoma elasticum, based on major and minor criteria, is described.

Adult↗
PubMed1991

Elastase digestion of normal and pseudoxanthoma elasticum lesional skin elastins.

Pseudoxanthoma elasticum (PXE) is a heritable disorder of connective tissue that is characterized by redundant folds of skin in flexural areas. There is considerable evidence that suggests that the elastic fiber is the main site of the abnormality although the primary molecular defect has not been identified. The aim of this study was to identify differences between PXE and normal skin elastins. Elastins from normal, nonsolar-exposed skin, and pseudoxanthoma elasticum lesional skin were purified and their solubilization by pancreatic elastase was compared. Results demonstrated that elastin derived from normal skin was more susceptible to proteolytic cleavage than elastin purified from either pseudoxanthoma elasticum lesional skin or ligamentum nuchae. Pretreatment of the lesional elastin with testicular hyaluronidase increased its solubilization two-fold and generated a unique 15,000 Da molecular weight fragment. Elastin prepared from PXE skin may contain bound glycosaminoglycans which interfere with elastase activity. The susceptibility of normal skin elastin to proteolytic degradation may have implications in the study of aging skin.

Adult↗