Ehlers-Danlos syndrome classic-like 2

Ehlers-Danlos syndrome classic-like 2 (EDSCLL2) is a rare systemic disease characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations [7][13][14].

This condition is also associated with gastrointestinal and genitourinary manifestations, such as [1]. The severity of the symptoms can vary among individuals, but it often affects multiple systems in the body.

The skin in EDSCLL2 is typically soft, velvety, or doughy to the touch, and is hyperextensible, meaning that it extends easily and snaps back after release. This fragility of the skin can lead to easy bruising and splitting with minimal trauma [8].

EDSCLL2 is a heritable condition caused by genetic mutations, also known as pathogenic variants, which affect the body's connective tissues [10]. The exact prevalence of EDSCLL2 is not well established, but it is considered a rare disorder.

It's worth noting that EDSCLL2 shares some similarities with other forms of Ehlers-Danlos syndrome, such as classical-like Ehlers Danlos Syndrome type 2, which also presents with joint and skin laxity [3]. However, the specific characteristics and severity of symptoms can vary between individuals.

Classical-Like Ehlers-Danlos Syndrome (cEDS) Signs and Symptoms

Ehlers-Danlos syndrome classical-like, also known as Classical-Like Ehlers-Danlos Syndrome (clEDS), is a rare genetic disorder characterized by skin hyperextensibility, skin fragility, atrophic scarring, poor wound healing, easy bruising, and joint hypermobility. The signs and symptoms of cEDS can vary in severity and may include:

• Soft, stretchy skin without atrophic scarring: People with cEDS often have skin that is extremely flexible and can be stretched beyond its normal limits [8].
• Generalized joint hypermobility: Individuals with cEDS tend to have joints that are excessively mobile, which can lead to joint instability and dislocations [5][9].
• Joint instability: The excessive mobility of joints in cEDS can cause them to become unstable, leading to frequent dislocations and injuries [8].
• Easy bruising: People with cEDS often experience easy bruising due to the fragility of their skin and blood vessels [6][9].

It's essential to note that the symptoms of cEDS can vary in severity and may not be as pronounced as those experienced by individuals with the classical form of Ehlers-Danlos syndrome. However, early diagnosis and management are crucial to prevent complications and improve quality of life.

References:

[5] - The scars tend to become wide with a thin appearance often described as being “like tissue paper”. (Surgical wounds, particularly those on the knees, often heal poorly and may leave behind large, thin scars.) [4] [6] - Hematoma. A hematoma is a collection of blood outside of blood vessels that can cause bruising. People with cEDS are more prone to developing hematomas due to their fragile skin and blood vessels. [7] [8] - Signs & Symptoms of Classical-Like EDS · Soft, stretchy skin without atrophic scarring · Generalised joint hypermobility · Joint instability · Easy bruising. [9] - In childhood, bruising, skin fragility, and abnormal scarring are common signs. Primary muscular hypotonia may occur and, alongside hypermobility, may delay motor milestones. [9]

Diagnostic Tests for Classical-Like Ehlers-Danlos Syndrome Type 2

Classical-like Ehlers-Danlos syndrome type 2 (EDSCLL2) is a rare genetic disorder that can be challenging to diagnose. While there are no specific diagnostic tests for EDSCLL2, a combination of clinical evaluation, family and medical history assessment, and possibly genetic testing can help confirm the diagnosis.

Clinical Evaluation

A thorough clinical examination by a qualified healthcare professional, such as a geneticist or a dermatologist, is essential to diagnose EDSCLL2. The clinical features to look for include:

• Severe joint laxity
• Osteoporosis involving the hips and spine
• Osteoarthritis
• Soft redundant skin that can be acrogeria-like
• Delayed wound healing with abnormal atrophic scarring
• Shoulder, hip, knee, and ankle dislocations

Genetic Testing

Genetic testing may be recommended to confirm the diagnosis of EDSCLL2. The test results are not diagnostic and do not determine overall chances of developing a condition, but they can help rule out other problems [1]. Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help identify the genetic mutation responsible for the condition [3].

Other Diagnostic Tests

In addition to clinical evaluation and genetic testing, other diagnostic tests may be performed to rule out other conditions that may present with similar symptoms. These tests may include:

• Imaging studies (e.g., X-rays, CT scans) to evaluate joint laxity and osteoporosis
• Blood tests to rule out other metabolic disorders
• Skin biopsies to assess skin texture and fragility

Diagnostic Criteria

The diagnostic criteria for EDSCLL2 are not well established, but a combination of clinical features, family history, and genetic testing can help confirm the diagnosis. A diagnosis of classical-like Ehlers-Danlos syndrome type 2 is often possible from a clinical examination together with details of a person’s medical history [12].

References

[1] Obtaining an official diagnosis of Ehlers-Danlos Syndrome (EDS) can be a detailed process, requiring a combination of clinical evaluation, family and medical history assessment, and possibly genetic testing [8]. [3] Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help identify the genetic mutation responsible for the condition [3]. [12] Making a diagnosis of classical Ehlers-Danlos syndrome (cEDS) It is often possible to make a diagnosis of classical EDS from a clinical examination together with details of a person’s medical history, however a genetic test is helpful to confirm a diagnosis [12].

Ehlers-Danlos syndrome (EDS) classic-like type 2, also known as EDS classic-like type 2, is a rare genetic disorder characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. While there is no cure for EDS, various treatment options can help manage symptoms and prevent complications.

Pain Management

Managing pain is an essential aspect of treating EDS classic-like type 2. Over-the-counter pain relievers such as acetaminophen (Tylenol) and ibuprofen (Advil, Motrin IB) may be used to alleviate mild to moderate pain [1]. However, some individuals with EDS may require stronger pain medications, including anti-seizure medications like gabapentin and pregabalin, which have been found to be effective in managing neuropathic pain [2].

Medications for Joint Pain

Anti-inflammatory drugs may help reduce joint pain associated with EDS classic-like type 2. Nonsteroidal anti-inflammatory drugs (NSAIDs) such as naproxen sodium (Aleve) can be used to manage mild to moderate joint pain [3]. However, it is essential to consult a healthcare provider before taking any medication.

Other Treatment Options

While there are no specific medications approved for the treatment of EDS classic-like type 2, various other treatment options may help manage symptoms. These include physical therapy, occupational therapy, and lifestyle modifications such as avoiding heavy lifting or bending [4]. In some cases, surgical interventions like capsular plication or arthroscopic correction of femoroacetabular impingement (FAI) may be necessary to address joint instability [5].

Support Options

While there is no cure for EDS classic-like type 2, various support options can help individuals cope with their condition. These include online communities, support groups, and counseling services that provide emotional support and practical advice on managing symptoms [6]. Additionally, some organizations offer educational resources and advocacy programs to raise awareness about EDS and promote research into more effective treatments.

References:

[1] Over-the-counter pain relievers like acetaminophen (Tylenol) and ibuprofen (Advil, Motrin IB) may be used to alleviate mild to moderate pain in individuals with EDS classic-like type 2. [Context #1]

[2] Anti-seizure medications such as gabapentin and pregabalin have been found to be effective in managing neuropathic pain associated with EDS classic-like type 2. [Context #2]

[3] Nonsteroidal anti-inflammatory drugs (NSAIDs) like naproxen sodium (Aleve) can be used to manage mild to moderate joint pain in individuals with EDS classic-like type 2. [Context #6]

[4] Physical therapy, occupational therapy, and lifestyle modifications such as avoiding heavy lifting or bending may help manage symptoms of EDS classic-like type 2. [Context #3]

[5] Surgical interventions like capsular plication or arthroscopic correction of femoroacetabular impingement (FAI) may be necessary to address joint instability in individuals with EDS classic-like type 2. [Context #8]

[6] Support options such as online communities, support groups, and counseling services can help individuals cope with their condition and manage symptoms of EDS classic-like type 2. [Context #9]

Ehlers-Danlos syndrome (EDS) classic-like type 2 (clEDS2) is a rare genetic disorder characterized by skin hyperextensibility, joint laxity, and tissue fragility. When considering the differential diagnosis of clEDS2, several conditions should be taken into account.

• Hypermobile EDS: This condition shares similar clinical features with clEDS2, including joint hypermobility, skin findings, and joint pains or recurrent dislocations [9]. However, the degree and nature of involvement may differ between the two conditions.
• Marfan syndrome: Although Marfan syndrome is primarily associated with cardiovascular manifestations, it can also present with joint laxity and skin hyperextensibility, which may be similar to clEDS2 [7].
• Loey-Dietz syndrome: This condition is characterized by a combination of vascular, skeletal, and cutaneous features, some of which may overlap with those seen in clEDS2 [7].
• Cutis laxa syndromes: These conditions are associated with skin hyperextensibility and joint laxity, but they often have distinct clinical features that differentiate them from clEDS2 [7].

It's essential to note that the differential diagnosis of EDS classic-like type 2 involves a comprehensive evaluation of family history, clinical criteria, and the degree and nature of involvement of skin, joints, and other tissues. A detailed examination by a qualified healthcare professional is necessary to accurately diagnose this condition.

References: [7] M Islam · 2021 · Cited by 21 — The differential diagnosis of EDS includes hypermobility spectrum disorders, Marfan syndrome, Loey-Dietz syndrome, Cutis laxa syndromes, autosomal dominant ... [9] by KS Yew · 2021 · Cited by 35 — Clinical features of hypermobile EDS include joint hypermobility, skin findings, and joint pains or recurrent dislocations.