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pseudoxanthoma elasticum

Description

Pseudoxanthoma Elasticum (PXE): A Rare Genetic Disorder

Pseudoxanthoma elasticum, also known as PXE, is a rare inherited disorder that affects the elastic connective tissue of the skin, eyes, and blood vessels. This condition occurs when abnormal calcification and mineralization of elastic fibers in affected tissues take place.

Key Features:

  • Genetic Basis: PXE is caused by mutations in the ABCC6 gene, which leads to a lack of functional protein that normally prevents mineralization of elastic fibers.
  • Systemic Disorder: The condition affects multiple systems, including the skin, eyes, cardiovascular system, and gastrointestinal tract.
  • Mineralization: Calcium and other minerals accumulate in elastic fibers, leading to their degeneration and fragmentation.

Symptoms:

  • Skin manifestations: small yellowish papules on the neck, armpits, knees, and other areas
  • Eye involvement: angioid streaks of the retina
  • Cardiovascular system: cardiovascular problems, such as atherosclerosis and aneurysms
  • Gastrointestinal tract: gastrointestinal symptoms, including abdominal pain and diarrhea

Prevalence: The estimated prevalence of PXE is between 1 in 100,000 to 1 in 25,000 people.

References:

  • [1] PXE is a prototype of heritable ectopic mineralization disorders with clinical involvement of the skin, the eyes, and the cardiovascular system.
  • [2] The condition was first described by French dermatologists in late 1800's, associated with elastic fiber degeneration in the skin and heart.
  • [3] The ABCC6 gene mutations are responsible for the majority (80%) of clinical cases of PXE.

Additional Characteristics

  • Pseudoxanthoma elasticum
  • A rare inherited disorder that affects the elastic connective tissue of the skin, eyes, and blood vessels.
  • Caused by mutations in the ABCC6 gene
  • Leads to mineralization of elastic fibers
  • Skin manifestations: small yellowish papules on the neck, armpits, knees, and other areas
  • Eye involvement: angioid streaks of the retina
  • Cardiovascular system: cardiovascular problems, such as atherosclerosis and aneurysms
  • Gastrointestinal tract: gastrointestinal symptoms, including abdominal pain and diarrhea

Signs and Symptoms

Common Signs and Symptoms of Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that affects the elastic tissue in various parts of the body, including the skin, eyes, and blood vessels. The signs and symptoms of PXE can vary from person to person, but here are some common ones:

  • Skin changes: Small, yellowish or skin-colored bumps (papules) may appear on the neck, face, and other areas where the skin folds. These papules can coalesce and form larger lesions.
  • Tight and wrinkled skin: The skin may become tight and wrinkled, especially in areas where it folds.
  • Rash: A rash or discoloration of the skin may occur.
  • Bruising easily: People with PXE may bruise easily due to fragile blood vessels.
  • Abnormalities in the cerebral vasculature: Narrowing of the arteries (arteriosclerosis) or other abnormalities in the blood vessels can cause symptoms such as cramping, weakness, and numbness in the legs.

Other Possible Symptoms

In addition to these common signs and symptoms, PXE can also cause:

  • Bleeding in the stomach: Gastrointestinal bleeding is a possible complication of PXE.
  • Sight loss: Abnormalities in the retina can lead to vision problems or even blindness.
  • Cramping when walking: Narrowing of the arteries can cause cramping, weakness, and numbness in the legs.

Variability in Symptoms

It's essential to note that symptoms of PXE can vary significantly between individuals, even within the same family. Some people may experience mild symptoms, while others may have more severe manifestations of the disease.

References:

  • [1] Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers.
  • [4] PXE results in a variety of signs and symptoms that vary in their number, type, and severity.
  • [9] Small bumps or lesions, called papules, may appear on the skin.
  • [10] Symptoms include small yellow-white raised areas in the skin folds that bend a great deal.
  • [12] The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis.

Additional Symptoms

  • Small, yellowish or skin-colored bumps (papules) may appear on the neck, face, and other areas where the skin folds.
  • Tight and wrinkled skin, especially in areas where it folds.
  • Rash or discoloration of the skin.
  • Bruising easily due to fragile blood vessels.
  • Sight loss (vision problems or blindness) due to abnormalities in the retina.
  • Cramping when walking due to narrowing of the arteries.
  • gastrointestinal bleeding
  • weakness

Diagnostic Tests

Diagnostic Tests for Pseudoxanthoma Elasticum

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that affects the skin, eyes, and cardiovascular system. Diagnosing PXE can be challenging, but several diagnostic tests can help confirm the condition.

  • Genetic Testing: Genetic testing is considered the gold standard for diagnosing PXE. It involves analyzing the ABCC6 gene to detect mutations associated with the condition. Over 90% of patients have detectable mutations [10].
  • Physical Examination: A physical examination by a dermatologist or other healthcare provider can help identify characteristic skin lesions, such as yellowish patches or papules.
  • Eye Examination: An eye examination is essential for diagnosing PXE, as it can reveal characteristic retinal findings, such as angioid streaks or peripheral retinal degeneration [1].
  • Skin Biopsy: A skin biopsy may be performed to confirm the diagnosis of PXE. The biopsy involves removing a small sample of skin tissue and examining it under a microscope for characteristic elastic fiber changes.
  • Blood Tests: Blood tests, such as a complete blood count (CBC) and fecal occult blood test, can help screen for iron deficiency anemia and gastrointestinal bleeding [11].

Diagnostic Teams

A diagnostic team for PXE may include:

  • Dermatology
  • Genetics
  • Cardiology
  • Nephrology
  • Neurology

These specialists work together to provide a comprehensive diagnosis and treatment plan for patients with PXE.

References: [1] Context 3: Pseudoxanthoma elasticum (PXE), a multisystem orphan disease, clinically affects the skin, the eyes, and the cardiovascular system with considerable morbidity and mortality. [10] Context 10: Genetic testing for ABCC6 mutation homozygosity or compound heterozygosity is the gold standard test for PXE. Over 90% of patients have detectable mutations. [11] Context 11: Jun 20, 2022 — Perform a CBC count to screen for iron deficiency anemia. Perform a fecal occult blood test to evaluate for GI bleeding.

Treatment

Current Drug Treatments for Pseudoxanthoma Elasticum (PXE)

Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, eyes, and vascular system. While there is no specific treatment targeting the underlying disease process, various drug treatments exist to manage its manifestations.

  • Anti-VEGF agents: Three anti-vascular endothelial growth factor (VEGF) agents are currently used: bevacizumab (off-label), ranibizumab, and aflibercept [5]. Aflibercept has been shown to improve or stabilize best-corrected visual acuity (BCVA), central retinal thickness (CRT), and retinal vessel caliber in patients with PXE [4].
  • Lifestyle modifications: Elevated serum lipid levels and hypertension can exacerbate the disease course. Initial treatment involves lifestyle modifications, followed by drug therapy if necessary.
  • Magnesium restriction: Restricting dietary magnesium has been investigated as a potential treatment for PXE, but its effectiveness is limited and not statistically significant [8].
  • Bisphosphonates and phosphate binders: Some studies have explored the use of bisphosphonates and phosphate binders to treat PXE, but these research findings are also limited and lack statistical significance [12].

Symptomatic Treatments

In addition to these treatments, symptomatic treatments are used to manage specific manifestations of PXE:

  • Cosmetic surgery: Options like laser therapy or surgical excision may be considered for significant cosmetic issues.
  • Standard-of-care interventions: For gastrointestinal bleeding and other systemic complications, standard-of-care interventions are employed.

Important Considerations

It is essential to note that there is no effective treatment for the systemic manifestations of PXE. However, therapies exist to counteract ocular complications, which can significantly impact quality of life [14].

Recommended Medications

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Differential Diagnosis

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder, and its differential diagnosis involves several conditions that can present with similar symptoms. Based on the search results, here are some conditions that may be considered in the differential diagnosis of PXE:

  • Beta Thalassemia: This is a genetic disorder that affects the production of hemoglobin, leading to anemia and other complications. It can cause angioid streaks, which are similar to those seen in PXE [1].
  • Cutis Laxa (Elastolysis): This is a rare condition characterized by loose skin due to elastin deficiency. It can present with similar skin manifestations as PXE [2].
  • Dermatofibrosis Lenticularis (Buschke): This is a rare genetic disorder that affects the skin and can cause calcification of elastic fibers, similar to PXE [3].
  • Solar Elastosis: This is a condition caused by prolonged exposure to sunlight, leading to elastin degradation and calcification. It can present with similar skin manifestations as PXE [4].
  • Acquired PXE (e.g., perforating calcific elastosis, chronic D): This refers to acquired conditions that mimic the features of PXE, such as calcification of elastic fibers [5].
  • Ehlers-Danlos syndrome: This is a rare genetic disorder affecting connective tissue, which can cause skin and joint manifestations similar to those seen in PXE [6].
  • Hemoglobinopathies (sickle cell disease, Beta-thalassemia, spherocytosis): These are genetic disorders that affect hemoglobin production, leading to anemia and other complications. They can cause angioid streaks, which are similar to those seen in PXE [7].
  • Dermal elastic tissue disorders: These include conditions such as elastosis perforans serpiginosa, which can present with similar skin manifestations as PXE [8].

It's essential to note that a definitive diagnosis of PXE requires genetic testing and clinical evaluation. The differential diagnosis listed above should be considered in conjunction with the patient's medical history, physical examination, and laboratory results.

References:

[1] Context 6 [2] Context 4 [3] Context 2 [4] Context 5 [5] Context 9 [6] Context 5 [7] Context 10 [8] Context 11

Additional Differential Diagnoses

Additional Information

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