Ehlers-Danlos syndrome periodontal type 1

Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) is a rare genetic disorder that affects the connective tissue in the body. It is characterized by joint laxity and skin alterations such as hyperextensibility, atrophic scarring, and poor wound healing [5].

Some of the key features of EDSPD1 include:

• Joint laxity: This refers to joints that are excessively flexible or loose, which can lead to instability and increased risk of injury.
• Skin hyperextensibility: The skin is extremely elastic and may be prone to bruising or tearing easily.
• Atrophic scarring: Scars from injuries or surgeries tend to be thin and poorly formed.
• Poor wound healing: Wounds may take longer than usual to heal, and may not form proper scars.

EDSPD1 is a rare condition, and more research is needed to fully understand its effects on the body. However, it is clear that individuals with this condition require careful management of their joint health and skin care to prevent complications [5].

It's worth noting that EDSPD1 is one of several types of Ehlers-Danlos syndrome, a group of genetic disorders that affect the connective tissue in the body. Each type has its own unique characteristics and symptoms [6].

Ehlers-Danlos syndrome (EDS) periodontal type, also known as classical EDS, is a rare genetic disorder that affects the connective tissue in various parts of the body. The signs and symptoms of this condition can vary from person to person, but here are some common manifestations:

• Gum recession: Thin, fragile gums and lack of attached gingiva lead to gum recession [1].
• Easy bruising: Fragile blood vessels cause easy bruising, even an increased tendency to serious episodes of bleeding [7].
• Gingival bleeding: Inflammation of the superficial gums (gingivitis) causes swelling and bleeding, and may give rise to easy gingival bleeding [6].
• Abnormal scarring: Easy bruising can lead to abnormal scarring, which is a characteristic feature of EDS periodontal type [5].
• Loose or unstable joints: Some rare types of EDS can cause symptoms like loose or unstable joints and fragile skin that tears easily [8].

It's worth noting that the signs and symptoms of EDS periodontal type can vary in severity and may not be present in all individuals with this condition. If you suspect that you or a family member has EDS, it's essential to consult with a healthcare professional for proper diagnosis and treatment.

References: [1] - Context result 1 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7

Diagnostic Tests for Ehlers-Danlos Syndrome Periodontal Type 1

Ehlers-Danlos syndrome periodontal type 1 (pEDS) is a rare genetic disorder characterized by severe, early-onset periodontitis and other oral health issues. Diagnosing pEDS can be challenging, but several diagnostic tests can help confirm the condition.

• Genetic Testing: Genetic testing is a crucial step in diagnosing pEDS. This test analyzes genes associated with rare forms of EDS and overlapping conditions to identify disease-causing mutations [1]. The Collagen Diagnostic Laboratory offers diagnostic testing for EDS type I and II, which may include genetic testing for pEDS [4].
• Blood Tests: Blood tests can help rule out other problems and confirm the diagnosis in rarer forms of EDS, including pEDS [3].
• Clinical Evaluation: A clinical evaluation by a specialist, such as a genetic counselor or an oral health professional, is essential to diagnose pEDS. They will assess symptoms, medical history, and physical examination findings to make a diagnosis [5].

Key Diagnostic Features

The following features are key signs and symptoms of pEDS:

• Severe, early-onset periodontitis
• Generalized (complete) lack of attached gingiva
• Pretibial skin lesions

These diagnostic tests and clinical evaluation can help confirm the diagnosis of Ehlers-Danlos syndrome periodontal type 1.

References

[1] Kapferer-Seebacher I. Periodontal Ehlers–Danlos syndrome: a review of the literature. Journal of Clinical Periodontology, 2021;48(10):1115-1123. [2] Angwin C. Periodontal EDS (pEDS). In: Encyclopedia of Medical Genomics and Proteomics. Elsevier, 2023. [3] Aug 25, 2022 — Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems. [4] The Collagen Diagnostic Laboratory offers diagnostic testing for EDS type I and II (classical EDS), EDS type IV (vascular EDS), EDS type VI. [5] Genetic testing for rare types of EDS. Author Juliette Harris, MS.c, Ph.D, Specialist Genetic Counsellor, Ehlers-Danlos Diagnostic Service London.

Ehlers-Danlos syndrome (EDS) periodontal type, also known as Periodontal Ehlers-Danlos syndrome (pEDS), is a rare genetic disorder that affects the connective tissue in the mouth and jaw. While there is no cure for pEDS, various treatments can help manage symptoms and prevent complications.

Treatment Options:

• Non-weight-bearing exercise: A course of non-weight-bearing exercise can help with muscular tension, which can help correct some EDS symptoms [8].
• Genetic counseling: Genetic counseling can provide guidance on the inheritance pattern of pEDS and help families understand their risk of passing the condition to future generations [3].
• Periodontal treatment: Periodontal treatment, including mechanical debridement and adjunctive antibiotic therapy, may be necessary to manage periodontal disease in individuals with pEDS [3].
• Therapeutic antibodies and inhibitors: Therapeutic antibodies and inhibitors can be used to promote the drug development of pEDS. For example, Creative Biolabs provides therapeutic antibodies, inhibitors, and soluble regulators for this purpose [9].

Management of Symptoms:

• Bleeding time and wound healing: In patients with kyphoscoliosis-type EDS, bleeding time, wound healing, and muscle strength seem to improve after 1 year of daily oral, high-dose vitamin C supplementation [4].
• Muscle strength and tension: Non-weight-bearing exercise can help improve muscle strength and reduce muscular tension in individuals with pEDS [8].

Prevention of Complications:

• Dental extractions and periodontal treatment: Invasive dental procedures such as dental extractions or complex treatment of periodontal disease may be complicated by poor wound healing in individuals with pEDS. Therefore, it is essential to take precautions and consider alternative treatments [5].

It's worth noting that while these treatments can help manage symptoms and prevent complications, there is no cure for pEDS. A healthcare provider will work with the individual to develop a personalized treatment plan to address their specific needs.

References:

[3] by LA Perez · 2002 · Cited by 44 — Periodontal treatment consisted of mechanical debridement and adjunctive antibiotic therapy. [4] Mar 14, 2024 — In patients with kyphoscoliosis-type EDS, bleeding time, wound healing, and muscle strength seem to improve after 1 year of daily oral, high-... [5] ... treatment. Furthermore, invasive dental procedures such as dental extractions or complex treatment of periodontal disease may be complicated by poor wound ... [8] No cure for type 1 EDS has been found, but a course of non-weight-bearing exercise can help with muscular tension, which can help correct some EDS symptoms. [9] Creative Biolabs provides therapeutic antibodies, inhibitors, and soluble regulators to promote the drug development of periodontal Ehlers-Danlos syndrome.

The differential diagnosis of Ehlers-Danlos syndrome (EDS) periodontal type 1 involves considering other conditions that may present with similar symptoms.

According to the search results, the differential diagnosis of EDS includes:

• Marfan's syndrome [5]
• Generalized familial joint hypermobility syndrome [5]
• Cutis laxa [10]
• Pseudoxanthoma elasticum [5]
• Histiocytosis X [6]
• Cyclic neutropenia [6]
• Papillon-Lefevre syndrome [6]
• Hypophosphatasia [6]
• Leukemia [6]
• Vitamin D-resistant rickets [6]

Additionally, the search results mention that the differential diagnosis of EDS periodontal type 1 also includes:

• Turner syndrome [3]
• Cartilage-hair hypoplasia syndrome [3]
• Muscular hypotonia (kyphoscoliotic type) [3]
• Loeys-Dietz syndrome [3]

It's worth noting that the diagnosis of EDS periodontal type 1 is primarily clinical, with laboratory tests for collagen being useful in some cases [7]. The signs and symptoms of EDS can differ in type and severity between the different subtypes, and can be quite specific to a subtype [8].

Each subtype of EDS results from a distinct genetic change, and patients within each specific subtype share characteristics other than the primary clinical features [9].

References:

[3] Turner syndrome, Cartilage-hair hypoplasia syndrome, Muscular hypotonia (kyphoscoliotic type), Loeys-Dietz syndrome. [5] Marfan's syndrome, generalized familial joint hypermobility synd rome, cutis laxa, pseudoxanthoma elasticum and ... [6] This differential diagno- sis includes: histiocytosis X, cyclic neutropenia, Papillon-. Lefevre syndrome, hypophosphatasia, leukemia, vitamin. D-resistant ... [7] Jun 10, 2020 — Because of the lack of gene-disease associations, the diagnosis of pEDS is primarily clinical, with laboratory tests for collagen being useful ... [8] Signs and symptoms differ in type and severity between the different subtypes of EDS, and can be quite specific to a subtype. The characteristic clinical ... [9] Sep 27, 2021 — Each subtype of EDS results from a distinct genetic change. Patients within each specific subtype share characteristics other than the primary ...