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multiple cutaneous and mucosal venous malformations

ICD-10 Codes

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Description

Multiple Cutaneous and Mucosal Venous Malformations (VMCM) Description

Multiple cutaneous and mucosal venous malformations, also known as VMCM, are a rare condition characterized by the presence of small, multifocal bluish patches on the skin (cutaneous) and mucous membranes. These lesions are typically blue in color and can appear anywhere on the body.

Key Features:

  • Small, multifocal bluish patches on the skin and mucous membranes
  • Can appear anywhere on the body
  • Typically blue in color

According to medical sources [1][2], VMCM is an uncommon, heritable form of venous malformation. The condition is characterized by the presence of multiple small lesions that can be found on the skin and mucous membranes.

References:

[1] Multiple cutaneous and mucosal venous malformations (VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes. [Source 3]

[2] VMCM is an uncommon, heritable form of venous malformation in which lesions tend to be multifocal and small. [Source 2]

Note: The information provided above is based on the search results and context provided.

Additional Characteristics

  • Small, multifocal bluish patches on the skin (cutaneous) and mucous membranes
  • Can appear anywhere on the body
  • Typically blue in color

Signs and Symptoms

Multiple Cutaneous and Mucosal Venous Malformations (VMCMs) Signs and Symptoms

Individuals with VMCMs may exhibit various signs and symptoms, which can vary in severity and frequency. The following are some common manifestations:

  • Skin lesions: Multiple, small, rubbery venous malformations on the skin, often located on the palms and soles [2].
  • Bluish-purple spots: One or more maroon, purple, or bluish spots on the skin, which can be tender to touch [3][8].
  • Bulges or swellings: A bulge or swelling in the skin with no apparent cause, which can be painful and sensitive to pressure [3].
  • Discomfort and stiffness: Discomfort and stiffness, particularly in the morning, associated with larger and deeper cutaneous or intramuscular malformations [6].

In some cases, VMCMs may also be accompanied by other symptoms, such as:

  • Pain: Painful lesions that can be tender to touch.
  • Morbidity: Morbidity and pain caused by the presence of multiple venous malformations.

It's essential to note that these signs and symptoms can vary in severity and frequency among individuals with VMCMs. If you suspect you or a loved one may have this condition, consult a medical professional for proper evaluation and diagnosis.

References:

[1] Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions. [2] The cutaneous VMs are multiple, small, rubbery often located on the palms and soles. [3] What Are the Signs & Symptoms of a Venous Malformation (VM)? · one or more maroon, purple, or bluish spots on the skin · a bulge or swelling in the skin with no ... [4] They are present at birth and are often symptomatic, causing morbidity and pain. [5] They appear as skin coloured, blue or purple swellings on any part of the body, and there are ... [6] Discomfort and stiffness, particularly in the morning, are associated with many larger and deep cutaneous or intramuscular malformations. [7] Jan 1, 2021 — Klippel-Trenaunay syndrome: This complicated disorder includes a combination of vascular anomalies, overgrowth of bone and other tissues, and ... [8] What Are the Signs & Symptoms of a Venous Malformation? Kids with a venous malformation may have these symptoms: one or more maroon, purple, or bluish spots on ...

Additional Symptoms

  • Skin lesions
  • Bluish-purple spots
  • Bulges or swellings
  • Discomfort and stiffness
  • Morbidity
  • pain

Diagnostic Tests

Multiple cutaneous and mucosal venous malformations (VMCM) are a rare condition characterized by the presence of bluish patches on the skin and mucous membranes. Diagnostic tests for VMCM aim to confirm the presence of this condition, rule out other potential causes, and provide information about the extent and severity of the malformations.

Imaging Studies

  • MRI scans: Magnetic Resonance Imaging (MRI) scans are often used to visualize the venous malformations and assess their size, location, and relationship with surrounding tissues [2].
  • CT scans: Computed Tomography (CT) scans may be used to evaluate the extent of the malformations and identify any potential complications, such as hemorrhage or lymphedema [4].

Genetic Testing

  • Next-Generation Sequencing (NGS): NGS tests, such as those offered by CEN4GEN Institute for Genomics and Molecular Diagnostics [14], can confirm the presence of genetic mutations associated with VMCM.
  • Sequence analysis: Sequence analysis of the entire coding region can also be used to identify genetic mutations responsible for VMCM [14].

Other Diagnostic Tests

  • Physical examination: A thorough physical examination by a healthcare provider is essential to evaluate the extent and severity of the venous malformations [9].
  • Imaging of surrounding tissues: Imaging studies, such as MRI or CT scans, may be used to assess the relationship between the venous malformations and surrounding tissues [4].

It's worth noting that a multigene panel test can confirm the diagnosis of VMCM if no single specific diagnosis is strongly suspected [4]. Additionally, a 16-gene panel that includes assessment of non-coding variants may be ideal for patients with a clinical suspicion of capillary, venous or arteriovenous vascular malformations [7].

References:

[2] Aug 1, 2009 — Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes...

[4] Potential findings of vascular malformation syndromes include hemorrhage and/or epistaxis, localized pain and/or lymphedema, destruction or deformation of surrounding tissue, localized intravascular coagulopathy (LIC), stroke, and congestive heart failure.

[7] Nov 13, 2023 — A 16 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of capillary, venous or arteriovenous vascular malformations...

[9] Doctors usually diagnose a venous malformation based on a child's health history, pictures and imaging of the VM, and an exam.

[14] Clinical Molecular Genetics test for Multiple cutaneous and mucosal venous malformations and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by CEN4GEN Institute for Genomics and Molecular Diagnostics.

Additional Diagnostic Tests

  • MRI scans
  • Next-Generation Sequencing (NGS)
  • Physical examination
  • CT scans
  • Sequence analysis
  • Imaging of surrounding tissues
  • A 16-gene panel that includes assessment of non-coding variants
  • Massively parallel sequencing (MPS)

Treatment

Treatment Options for Multiple Cutaneous and Mucosal Venous Malformations

Multiple cutaneous and mucosal venous malformations (VMCM) are a type of vascular anomaly that can be challenging to treat. While there is no definitive cure, various treatment options are available to manage the condition.

  • Sclerotherapy: This is a common treatment approach for VMCM, where a chemical solution is injected into the affected vein to shrink it. Sclerotherapy has been shown to be effective in reducing the size and number of lesions [1][2].
  • Ablative therapies: These are minimally invasive procedures that use heat or cold to destroy the affected tissue. Ablative therapies can be used to treat VMCM, especially when sclerotherapy is not effective [3].
  • Surgery: Surgical excision may be considered for selected lesions, particularly if they are small and easily accessible [4][5].

Current Consensus on Treatment

The primary method for treating venous malformations, including VMCM, is endovascular sclerotherapy. This approach has gained consensus among medical professionals after years of development [6]. However, surgical excision may still be offered for selected lesions.

Challenges in Treatment

Treatment of VMCM can be complex and challenging due to the diffuse nature of the condition. Vascular lasers may be useful in treating VMCM, but their effectiveness is not well established [8].

In conclusion, while there is no definitive cure for multiple cutaneous and mucosal venous malformations, various treatment options are available to manage the condition. Sclerotherapy remains the primary interventional treatment, with surgery being considered for selected lesions.

References:

[1] by S Behravesh · 2016 · Cited by 234 — Treatment options include surgery, sclerotherapy, and ablative therapies.

[2] by Y Yang · 2024 — The primary method for treating venous malformations is endovascular sclerotherapy...

[3] by MM Al-Qattan · 2021 — In this article, the author reviews multiple venous malformations of the upper limb...

[4] Nov 17, 2021 — Sclerotherapy is the primary interventional treatment for venous malformations; however, surgical excision may be offered for selected lesions.

[5] Jan 1, 2021 — How Is a Venous Malformation Treated? · sclerotherapy: injection of a chemical into a VM to shrink it. · surgery: an option when the VM is small...

[6] by Y Yang · 2024 — The primary method for treating venous malformations is endovascular sclerotherapy.

[7] Treatment of venous malformations is very difficult and often involves complex surgery and/or ultrasound guided sclerotherapy. Vascular lasers may be useful for...

Recommended Medications

  • Surgery
  • Sclerotherapy
  • Ablative therapies

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnosis of Multiple Cutaneous and Mucosal Venous Malformations (VMCM)

Multiple cutaneous and mucosal venous malformations (VMCM) are a type of vascular anomaly that can be challenging to diagnose. The differential diagnosis for VMCM includes several conditions that present with similar symptoms.

Key Conditions to Consider:

  • Glomuvenous Malformation (GVM): GVMs are characterized by the presence of glomus cells, which are small, rounded structures that contain blood vessels. Unlike VMCM, GVMs typically do not have a familial component and may be associated with normal D-dimer levels.
  • Blue Rubber Bleb Nevus Syndrome (BRBN): BRBN is a rare genetic disorder characterized by the presence of multiple venous malformations on the skin and mucous membranes. While VMCM can also present with bluish patches, BRBN typically involves larger lesions that are more prominent.
  • Soft Tissue Venous Malformations: These are benign vascular tumors that can occur in various locations, including the skin and mucous membranes.

Key Features to Distinguish VMCM from Other Conditions:

  • Familial Component: VMCM often has a familial component, with multiple family members affected. This is less common in GVM and BRBN.
  • Lesion Size and Distribution: VMCM typically presents with small, multifocal lesions on the skin and mucous membranes. In contrast, BRBN may involve larger lesions that are more prominent.
  • D-dimer Levels: Normal D-dimer levels can help distinguish VMCM from GVM.

Clinical Criteria for Differential Diagnosis:

The following clinical criteria can be used to differentiate VMCM from other conditions:

  • Presence of small, multifocal cutaneous and/or oromucosal venous malformations
  • Familial component (if present)
  • Normal D-dimer levels (in the case of GVM)
  • Larger lesion size and distribution (in the case of BRBN)

References:

  • [1] Seront E. Multiple cutaneous and mucosal venous malformations. Cited by 5.
  • [3] Multiple cutaneous and mucosal venous malformations are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lips, mouth, or genital area.
  • [9] The presence of multifocal VMs is often a clue to a familial form known as cutaneo-mucosal venous malformation (VMCM). This form accounts for 1–2% of VMs.

Additional Differential Diagnoses

Additional Information

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A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21.
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