Pseudoxanthoma elasticum: Difference between revisions
From WikiMD's Wellness Encyclopedia
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{{Infobox medical condition | |||
| name = Pseudoxanthoma elasticum | |||
| image = [[File:Pseudoxanthoma_elasticum_3.jpg|250px]] | |||
| caption = Skin lesions in pseudoxanthoma elasticum | |||
| synonyms = Grönblad–Strandberg syndrome | |||
| pronounce = | |||
| specialty = [[Dermatology]], [[Genetics]] | |||
| symptoms = [[Yellowish papules]], [[skin laxity]], [[retinal changes]] | |||
| complications = [[Vision loss]], [[gastrointestinal bleeding]], [[cardiovascular disease]] | |||
| onset = Childhood to early adulthood | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[ABCC6]] gene | |||
| risks = Family history | |||
| diagnosis = [[Clinical examination]], [[genetic testing]] | |||
| differential = [[Ehlers-Danlos syndrome]], [[Cutis laxa]], [[Anetoderma]] | |||
| prevention = None | |||
| treatment = [[Symptomatic treatment]], [[laser therapy]] for retinal issues | |||
| medication = | |||
| prognosis = Variable, depends on severity | |||
| frequency = 1 in 25,000 to 100,000 | |||
| deaths = Rarely directly fatal | |||
}} | |||
[[File:autorecessive.svg|thumb|Autosomal recessive inheritance pattern]] | |||
[[File:Histopathology_of_pseudoxanthoma_elasticum.jpg|left|thumb|Histopathology of pseudoxanthoma elasticum]] | |||
[[File:PXE-like_papillary_dermal_elastolysis.jpg|left|thumb|PXE-like papillary dermal elastolysis]] | |||
[[File:Histopathology_of_PXE-like_papillary_dermal_elastolysis.jpg|thumb|Histopathology of PXE-like papillary dermal elastolysis]] | |||
[[File:Pseudoxanthoma_elasticum_1.jpg|left|thumb|Pseudoxanthoma elasticum]] | |||
[[File:Pseudoxanthoma_elasticum_2.jpg|left|thumb|Pseudoxanthoma elasticum]] | |||
'''Pseudoxanthoma elasticum''' (PXE), also known as '''Grönblad–Strandberg syndrome''', is a rare, inherited disorder that causes calcium and other minerals to accumulate in the body's soft tissues. This accumulation can result in changes to the skin, eyes, cardiovascular system, and gastrointestinal system. | '''Pseudoxanthoma elasticum''' (PXE), also known as '''Grönblad–Strandberg syndrome''', is a rare, inherited disorder that causes calcium and other minerals to accumulate in the body's soft tissues. This accumulation can result in changes to the skin, eyes, cardiovascular system, and gastrointestinal system. | ||
== Signs and Symptoms == | == Signs and Symptoms == | ||
The signs and symptoms of PXE vary widely among affected individuals. Some people may have severe symptoms, while others may have only mild signs of the disorder. The most common symptoms include: | The signs and symptoms of PXE vary widely among affected individuals. Some people may have severe symptoms, while others may have only mild signs of the disorder. The most common symptoms include: | ||
* [[Skin]] changes: The skin may become loose, saggy, and wrinkled. It may also develop small, yellowish bumps. | * [[Skin]] changes: The skin may become loose, saggy, and wrinkled. It may also develop small, yellowish bumps. | ||
* [[Eye]] changes: PXE can cause changes to the [[retina]], which can lead to vision loss. | * [[Eye]] changes: PXE can cause changes to the [[retina]], which can lead to vision loss. | ||
* [[Cardiovascular]] problems: PXE can cause narrowing of the [[blood vessels]], which can lead to [[heart disease]] and [[stroke]]. | * [[Cardiovascular]] problems: PXE can cause narrowing of the [[blood vessels]], which can lead to [[heart disease]] and [[stroke]]. | ||
* [[Gastrointestinal]] problems: Some people with PXE may experience gastrointestinal bleeding. | * [[Gastrointestinal]] problems: Some people with PXE may experience gastrointestinal bleeding. | ||
== Causes == | == Causes == | ||
PXE is caused by mutations in the [[ABCC6]] gene. This gene provides instructions for making a protein that is involved in the transport of certain molecules across cell membranes. Mutations in the ABCC6 gene disrupt this transport process, leading to the accumulation of minerals in the body's soft tissues. | PXE is caused by mutations in the [[ABCC6]] gene. This gene provides instructions for making a protein that is involved in the transport of certain molecules across cell membranes. Mutations in the ABCC6 gene disrupt this transport process, leading to the accumulation of minerals in the body's soft tissues. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of PXE is based on the presence of characteristic signs and symptoms, a family history of the disorder, and genetic testing to identify mutations in the ABCC6 gene. | The diagnosis of PXE is based on the presence of characteristic signs and symptoms, a family history of the disorder, and genetic testing to identify mutations in the ABCC6 gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for PXE. Treatment is aimed at managing the symptoms and preventing complications. This may include regular eye exams to monitor for changes in vision, medications to manage cardiovascular problems, and surgery to remove excess skin. | There is currently no cure for PXE. Treatment is aimed at managing the symptoms and preventing complications. This may include regular eye exams to monitor for changes in vision, medications to manage cardiovascular problems, and surgery to remove excess skin. | ||
== See Also == | == See Also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
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* [[Cardiovascular disease]] | * [[Cardiovascular disease]] | ||
* [[Gastrointestinal disease]] | * [[Gastrointestinal disease]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Skin disorders]] | [[Category:Skin disorders]] | ||
| Line 33: | Line 54: | ||
[[Category:Cardiovascular diseases]] | [[Category:Cardiovascular diseases]] | ||
[[Category:Gastrointestinal diseases]] | [[Category:Gastrointestinal diseases]] | ||
{{stub}} | {{stub}} | ||
Revision as of 04:28, 14 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Pseudoxanthoma elasticum | |
|---|---|
| File:Pseudoxanthoma elasticum 3.jpg | |
| Synonyms | Grönblad–Strandberg syndrome |
| Pronounce | |
| Specialty | Dermatology, Genetics |
| Symptoms | Yellowish papules, skin laxity, retinal changes |
| Complications | Vision loss, gastrointestinal bleeding, cardiovascular disease |
| Onset | Childhood to early adulthood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the ABCC6 gene |
| Risks | Family history |
| Diagnosis | Clinical examination, genetic testing |
| Differential diagnosis | Ehlers-Danlos syndrome, Cutis laxa, Anetoderma |
| Prevention | None |
| Treatment | Symptomatic treatment, laser therapy for retinal issues |
| Medication | |
| Prognosis | Variable, depends on severity |
| Frequency | 1 in 25,000 to 100,000 |
| Deaths | Rarely directly fatal |
Pseudoxanthoma elasticum (PXE), also known as Grönblad–Strandberg syndrome, is a rare, inherited disorder that causes calcium and other minerals to accumulate in the body's soft tissues. This accumulation can result in changes to the skin, eyes, cardiovascular system, and gastrointestinal system.
Signs and Symptoms
The signs and symptoms of PXE vary widely among affected individuals. Some people may have severe symptoms, while others may have only mild signs of the disorder. The most common symptoms include:
- Skin changes: The skin may become loose, saggy, and wrinkled. It may also develop small, yellowish bumps.
- Eye changes: PXE can cause changes to the retina, which can lead to vision loss.
- Cardiovascular problems: PXE can cause narrowing of the blood vessels, which can lead to heart disease and stroke.
- Gastrointestinal problems: Some people with PXE may experience gastrointestinal bleeding.
Causes
PXE is caused by mutations in the ABCC6 gene. This gene provides instructions for making a protein that is involved in the transport of certain molecules across cell membranes. Mutations in the ABCC6 gene disrupt this transport process, leading to the accumulation of minerals in the body's soft tissues.
Diagnosis
The diagnosis of PXE is based on the presence of characteristic signs and symptoms, a family history of the disorder, and genetic testing to identify mutations in the ABCC6 gene.
Treatment
There is currently no cure for PXE. Treatment is aimed at managing the symptoms and preventing complications. This may include regular eye exams to monitor for changes in vision, medications to manage cardiovascular problems, and surgery to remove excess skin.
See Also
References
<references />
