Periodontal Ehlers-Danlos syndrome

Alternate names

Ehlers-Danlos syndrome, type VIII (formerly); EDS VIII (formerly); EDS8 (formerly); EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE; Ehlers-Danlos syndrome type 8 (formerly); EDS VIII; Ehlers-Danlos syndrome type 8; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; pEDS

Definition

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

Cause

• The syndrome appears to be genetically heterogeneous.
• However, analysis of several patients has led to the identification of a potential gene locus on chromosome 12p13.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

The syndrome is transmitted in an autosomal dominant manner.

Signs and symptoms

• EDS type VIII is the rarest form of EDS and is characterized by severe early-onset periodontal disease in conjunction with the presence of plaques of scar tissue in the pretibial zones (hyperpigmented atrophic scars).
• The periodontitis is generalized with early-onset (appearing at puberty) and may lead to loss of teeth before 30 years of age, and alveolar bone deterioration.
• The joint hyperlaxity and cutaneous hyperelasticity are variable.
• Most patients have short stature and orofacial characteristics such as micrognathia, gingival hyperplasia with varying degrees of hyperkeratosis, and agenesis or microdontia of multiple teeth, accompanied sometimes by increased sensitivity to infection.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Atrophic scars(Sunken or indented skin due to damage)
• Hypermelanotic macule(Hyperpigmented spots)
• Periodontitis
• Short stature(Decreased body height)

30%-79% of people have these symptoms

• Agenesis of permanent teeth(Failure of development of permanent teeth)
• Atrophy of alveolar ridges(Shrinking of gum ridges)
• Gingival overgrowth(Gum enlargement)
• Hyperextensible skin(Hyperelastic skin)
• Joint hyperflexibility(Joints move beyond expected range of motion)
• Microdontia(Decreased width of tooth)

5%-29% of people have these symptoms

• Arachnodactyly(Long slender fingers)
• Generalized joint laxity(Hypermobility of all joints)
• Micrognathia(Little lower jaw)
• Premature loss of primary teeth(Early loss of baby teeth)
• Recurrent infections(Frequent infections)
• Scoliosis
• Tall stature(Increased body height)

Diagnosis

Clinical diagnosis of pEDS should be based on severe periodontitis with early onset in combination with absence of attached gingiva, as well as pretibial hyperpigmentation and easy bruising and confirmation by genetic tests. Individuals should receive specific surveillance for aneurysms.

Treatment

There is no specific treatment for the disease but symptomatic management of the dental anomalies is essential.

NIH genetic and rare disease info

• NIH info on Periodontal Ehlers-Danlos syndrome

Periodontal Ehlers-Danlos syndrome is a rare disease.

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