Urinary calculi are characterized by high incidence and recurrence rate, which is a challenge in urology. The theory of Randall plaque is widely recognized by scholars. The mechanism of Randall plaque formation includes vascular calcification, osteogenic transformation and so on. However, it still lacks a unified theory for the Randall plaque formation. As an important type of non-coding RNA, long non-coding RNA (lncRNA) is closely related to the occurrence and progress of many diseases. The difference in lncRNA expression between the renal papillary tissues of non-calculous patients and the renal papillary tissues of Randall plaque in renal calculous patients suggests that lncRNA may be involved in the formation of Randall plaque. Pseudoxanthoma elasticum is a rare autosomal recessive hereditary disease, caused by a mutation in the ABCC6 gene. Patients with pseudoxanthoma elasticum have a high prevalence of calculi, and plaque formation is observed in the patient's kidney, which may suggest that mutation in the ABCC6 gene might be involved in the formation of Randall plaque.
Humans ; Kidney ; Kidney Calculi ; Multidrug Resistance-Associated Proteins ; Mutation ; Plaque, Atherosclerotic ; Pseudoxanthoma Elasticum ; Vascular Calcification

No abstract available.
Carotid Artery, Internal ; Pseudoxanthoma Elasticum

No abstract available.
Glaucoma, Angle-Closure* ; Humans ; Pseudoxanthoma Elasticum*

Pseudoxanthoma elasticum (PXE)-like disorder with multiple coagulation factor deficiency is a genetic disease characterized by dystrophic mineralization of the connective tissue in multiple organs such as the skin, arteries, and retina. Patients with this disorder have excessive folding and sagging of the skin with loss of recoil, as well as coagulopathy. Crohn's disease is a chronic inflammatory condition of the gastrointestinal tract, which primary affects the small intestine, often leading to malnutrition. Here, we describe the case of a 25-year-old woman who presented with these diseases. We found that nutrient deficiency due to long-term Crohn's disease aggravated the coagulopathy associated with PXE-like disorder.
Adult ; Arteries ; Blood Coagulation Factors* ; Connective Tissue ; Crohn Disease* ; Female ; Gastrointestinal Tract ; Humans ; Intestine, Small ; Malnutrition ; Pseudoxanthoma Elasticum ; Retina ; Skin

Pseudoxanthoma elasticum is a multiorgan disorder, characterized by ectopic mineralization of elastic fibers of skin, eyes, and cardiovascular system. The dermatologic manifestations include laxity of skin, as well as cutis laxa-like wrinkling especially on both axillae. The classic forms of pseudoxanthoma elasticum are due to mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, a presumed transmembrane transporter expressed primarily in the liver and the kidneys. Recent case reports of mutations of gamma-glutamyl carboxylase (GGCX) gene describe associations with vitamin K-dependent coagulation factor deficiency and pseudoxanthoma elasticum as well. A 23-year old woman presented with laxity on both axillae and trunk and a history of vitamin K-dependent coagulation factor deficiency, diagnosed 2 years ago. Fragmented and markedly degenerated elastic fibers with calcium deposition were identified on biopsy specimens. Herein, we report a case of autosomal recessive pseudoxanthoma elasticum combined with vitamin K-dependent coagulation factor deficiency.
Axilla ; Biopsy ; Blood Coagulation Factors ; Calcium ; Carbon-Carbon Ligases ; Cardiovascular System ; Elastic Tissue ; Eye ; Female ; Genes, vif ; Humans ; Kidney ; Liver ; Pseudoxanthoma Elasticum ; Skin ; Vitamins

Fibroelastolytic papulosis of the neck (FEPN) encompasses a spectrum of two disorders that were previously reported as pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) and white fibrous papulosis of the neck (WFPN). The clinical presentation of FEPN is asymptomatic to mildly pruritic whitish-yellow papules that may coalesce into cobblestone patterned plaques that resemble pseudoxanthoma elasticum (PXE). The histology is characterized by a decrease or loss of elastic fibers in the papillary dermis and this is sometimes accompanied by a minimal or nodular increase of dermal collagen fibers. We report here on a 28-year-old Korean man with asymptomatic, multiple, skin-colored to slightly yellowish, match-head sized, cobblestone-patterned papules on the neck, and these were histologically consistent with FEPN and the papules showed slightly increased dermal collagen associated with decreased and fragmented elastic fibers, elastin and tropoelastin. The pathogenesis of FEPN in this case might have been related with mild dermal inflammation, followed by fragmentation, elastolysis and increased dermal collagen.
Adult ; Collagen ; Dermis ; Elastic Tissue ; Elastin ; Humans ; Inflammation ; Neck ; Pseudoxanthoma Elasticum ; Tropoelastin

Periumbilical perforating pseudoxanthoma elasticum is a rare acquired disorder of connective tissue. It has been suggested that repeated traumas of pregnancy, obesity, or abdominal surgery promote localized degeneration of elastic fibers. Most cases reported in the English literature occurred in obese, middle aged, multiparous women. We describe a 29-year-old male who had two hyperpigmented plaques on the periumbilical area. He had angioid streaks, but was not obese and did not have hypertension. A skin biopsy revealed transepidermal elimination of degenerated and calcified elastic fibers, which was consistent with periumbilical perforating pseudoxanthoma elasticum. We report an interesting case of periumbilical perforating pseudoxanthoma elasticum that occurred in a young man with no known predisposing risk factors.
Adult ; Angioid Streaks ; Biopsy ; Connective Tissue ; Elastic Tissue ; Female ; Humans ; Hypertension ; Male ; Middle Aged ; Obesity ; Pregnancy ; Pseudoxanthoma Elasticum ; Risk Factors ; Skin

Pseudoxanthoma elasticum (PXE) is a heritable disorder of elastic tissue and it has many systemic manifestations. PXE is a systemic disorder that most markedly affects the elastic tissues in the skin, retina and blood vessels. Defects in the ABCC6 gene lead to calcification of elastic tissue. We herein report on two cases of pseudoxanthoma elasticum that presented with focal involvement on the skin of the neck without marked wrinkling.
Blood Vessels ; Elastic Tissue ; Neck ; Pseudoxanthoma Elasticum ; Retina ; Skin

Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-like PDE) is a rare acquired elastolytic disorder that clinically resembles pseudoxanthoma elasticum. The pathogenesis of this disease is uncertain, but it seems to be related to intrinsic aging, abnormal elastogenesis, a genetic predisposition and exposure to ultraviolet radiation. It generally develops on the sides of the neck and supraclavicular regions in elderly persons. Histologically, the characteristic features are the loss of elastic fibers in the papillary dermis and no solar elastosis. We report here on a case of PXE-like PDE in a 26-year-old female whose skin lesion developed 9 years previously. Despite the preferential occurrence at an old age, our patient was young.
Adult ; Aged ; Aging ; Dermis ; Elastic Tissue ; Female ; Genetic Predisposition to Disease ; Humans ; Neck ; Pseudoxanthoma Elasticum ; Skin

INTRODUCTIONPseudoxanthoma elasticum (PXE) is an inherited multisystem disorder of the elastic tissue and the objective of this case report is to correlate ultrasonographic and histological appearances of placental calcification in PXE.

CLINICAL PICTUREWe report a case of a 37-year-old white woman with PXE, whose antenatal imaging showed a markedly echogenic placenta due to extensive calcification confirmed on postpartum placental histology.

OUTCOMEThere were no maternal or fetal complications in the antenatal period. A healthy baby of appropriate maturity and weight was delivered via Caesarean section and remained well at 6 months.

CONCLUSIONThe majority of cases of PXE is caused by mutations in the ABCC6 gene. Serious complications in pregnancy can include gastrointestinal haemorrhage, congestive heart failure and cardiac arrhythmia but has not been shown to be associated with markedly increased fetal loss or adverse reproductive outcomes as reported in previous literature. Apart from the cosmetic deterioration of the abdominal skin, there were few serious complications and most have normal pregnancies. Obstetric prognosis is dependent on the vascular damage caused by the illness. There is no basis for advising women with PXE to avoid becoming pregnant, and most pregnancies in PXE are uncomplicated.

Adult ; Calcinosis ; diagnosis ; etiology ; Cesarean Section ; Female ; Humans ; Placenta Diseases ; diagnosis ; etiology ; pathology ; Pregnancy ; Pregnancy Outcome ; Pseudoxanthoma Elasticum ; complications ; diagnosis ; Risk Factors