Ehlers-Danlos syndrome periodontal type 2

Ehlers-Danlos syndrome periodontal type 2 (EDSPD2) is a rare autosomal dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings [1][7]. It is also known as Periodontal Ehlers-Danlos Syndrome Type 2.

The clinical characteristics of EDSPD2 include:

• Early-onset periodontitis leading to premature loss of permanent teeth [3][10]
• Lack of attached gingiva and thin, fragile gums leading to gingival recession [10]
• Joint hypermobility, particularly in the distal joints [12]
• Mild skin findings, including easy bruising, pretibial plaques, and skin fragility [12]

EDSPD2 is caused by heterozygous mutations in the C1S gene on chromosome 12p13 [11]. It is a rare type of Ehlers-Danlos syndrome that affects the periodontal tissues and joints.

References:

[1] - Search result 7: Periodontal Ehlers-Danlos syndrome type 2 (EDSPD2) is an autosomal dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth. [3] - Search result 10: Periodontal tissue breakdown beginning in the teens results in premature loss of teeth. [7] - Search result 11: A number sign (#) is used with this entry because of evidence that Ehlers-Danlos syndrome periodontal type 2 (EDSPD2) is caused by heterozygous mutation in the C1S gene (120580) on chromosome 12p13. [10] - Search result 10: Periodontal tissue breakdown beginning in the teens results in premature loss of teeth. Lack of attached gingiva and thin and fragile gums lead to gingival recession. [11] - Search result 7: Description. Periodontal Ehlers-Danlos syndrome type 2 (EDSPD2) is an autosomal dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. [12] - Search result 12: A rare type of Ehlers-Danlos syndrome characterized by childhood or adolescence onset of severe, intractable periodontitis, lack of attached gingiva, and presence of pretibial plaques. Additional manifestations are easy bruising, hypermobility mainly of the distal joints, skin hyperextensibility and fragility, abnormal scarring, recurrent ...

Ehlers-Danlos Syndrome Periodontal Type 2 (EDSPD2) is a rare genetic disorder characterized by early-onset periodontitis, which leads to severe gum disease and tooth loss. The signs and symptoms of EDSPD2 are as follows:

• Early-onset periodontitis: This is the primary feature of EDSPD2, leading to inflammation of the gums (gingivitis) and subsequent destruction of the supporting tissues around the teeth.
• Gum recession: Thin, fragile gums and lack of attached gingiva lead to gum recession in individuals with EDSPD2 [2].
• Easy bruising: Fragile blood vessels cause easy bruising, even an increased tendency to serious episodes of bleeding [7].
• Oral symptoms: Inflammation of the superficial gums (gingivitis) causes swelling and bleeding, and may give rise to easy gingival bleeding, an unpleasant taste, and oral pain [5].

It's essential to note that EDSPD2 is a rare condition, and its diagnosis can be challenging. A comprehensive dental examination, medical history, and genetic testing are necessary for accurate diagnosis.

References: [1] Not applicable (since this information was not provided in the context) [2] Context #2 [5] Context #5 [7] Context #7

Diagnostic Tests for Periodontal Ehlers-Danlos Syndrome Type 2

Periodontal Ehlers-Danlos syndrome (pEDS) is a rare genetic disorder characterized by severe, early-onset periodontitis and other oral manifestations. Diagnostic tests are essential to confirm the diagnosis of pEDS and rule out other conditions.

Genetic Testing

Genetic testing can confirm the diagnosis of pEDS in probands with suggestive findings [2]. The testing involves analyzing genes associated with rare forms of EDS and overlapping conditions to look for disease-causing mutations [4]. This type of testing is particularly useful in ruling out other problems and confirming the diagnosis in rarer forms of Ehlers-Danlos syndrome.

Collagen Diagnostic Laboratory

The Collagen Diagnostic Laboratory offers diagnostic testing for EDS types I and II (classical EDS), EDS type IV (vascular EDS), and EDS type VI [5]. While this laboratory may not specifically offer testing for pEDS, it is essential to note that genetic testing can be used to confirm the diagnosis of various forms of Ehlers-Danlos syndrome.

Other Diagnostic Tests

A healthcare provider will use a variety of tests to make an EDS diagnosis and rule out other conditions [7]. This may include genetic testing, imaging studies (e.g., X-rays, CT scans), and physical examinations. A comprehensive diagnostic approach is necessary to accurately diagnose pEDS.

References:

• [1] Clinical resource with information about Ehlers-Danlos syndrome periodontal type 2 and its clinical features.
• [2] Establishing the Diagnosis of periodontal Ehlers-Danlos syndrome.
• [4] Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome.
• [5] The Collagen Diagnostic Laboratory offers diagnostic testing for EDS type I and II (classical EDS), EDS type IV (vascular EDS), EDS type VI.
• [7] A healthcare provider will use a variety of testing to make an EDS diagnosis and to rule out other conditions.

Ehlers-Danlos syndrome (EDS) periodontal type, also known as Periodontal Ehlers-Danlos Syndrome (pEDS), is a rare autosomal dominant type of EDS characterized by severe early-onset periodontal disease. While there is no cure for pEDS, various medications can help alleviate symptoms and manage the condition.

Medications used to treat pEDS:

• Anti-inflammatory medications: These can be used to manage pain and inflammation associated with periodontal disease in individuals with pEDS [5].
• Pain relief medications: Medications such as acetaminophen or ibuprofen can help alleviate joint pain and other symptoms associated with EDS [9].
• Blood pressure medications: Certain medications, like beta blockers, can be used to reduce blood pressure and prevent complications caused by blood vessel fragility in individuals with pEDS [9].

Management of periodontal disease:

• Lifelong management: Periodontal disease is a key aspect of care for individuals with pEDS. Regular dental check-ups and proper oral hygiene can help manage the condition [6].
• High-dose vitamin C therapy: Some studies have explored the potential benefits of high-dose ascorbic acid (vitamin C) therapy in managing symptoms associated with EDS, including periodontal disease [3].

It's essential to note that each individual with pEDS may require a personalized treatment plan, and healthcare providers should work closely with patients to develop an effective management strategy.

References:

[1] Context result 6 [2] Context result 9 [3] Context result 3 [5] Context result 5

The differential diagnosis for Ehlers-Danlos syndrome periodontal type 2 (EDSPD2) is a crucial aspect of its clinical management.

According to the available information, Aggressive periodontitis (MIM: 170650) is a main differential diagnosis of pEDS [4]. It is a complex genetic disease and is characterized by a high rate of disease progression, leading to premature loss of teeth. This condition shares some similarities with EDSPD2 in terms of its impact on the periodontal tissues.

Other conditions that may be considered in the differential diagnosis for EDSPD2 include:

• Turner syndrome [5]
• Cartilage-hair hypoplasia syndrome
• Muscular hypotonia (kyphoscoliotic type)
• Loeys-Dietz syndrome [5]

It is essential to note that a comprehensive diagnostic evaluation, including clinical examination, medical history, and genetic testing, is necessary to accurately diagnose EDSPD2 and rule out other potential differential diagnoses.

References:

[4] Aggressive periodontitis (MIM: 170650) is a main differential diagnosis of pEDS. [5] Turner syndrome · Cartilage-hair hypoplasia syndrome · Muscular hypotonia (kyphoscoliotic type) · Loeys-Dietz syndrome.