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Ehlers-Danlos syndrome, periodontal type 2(EDSPD2)

MedGen UID:
934648
Concept ID:
C4310681
Disease or Syndrome
Synonyms: EDSPD2; EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
 
Gene (location): C1S (12p13.31)
 
Monarch Initiative: MONDO:0014954
OMIM®: 617174

Disease characteristics

Excerpted from the GeneReview: Periodontal Ehlers-Danlos Syndrome
Periodontal Ehlers-Danlos syndrome (pEDS) is characterized by distinct oral manifestations. 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. Connective tissue abnormalities of pEDS typically include easy bruising, pretibial plaques, distal joint hypermobility, hoarse voice, and less commonly manifestations such as organ or vessel rupture. Since the first descriptions of pEDS in the 1970s, 148 individuals have been reported in the literature; however, future in-depth descriptions of non-oral manifestations in newly diagnosed individuals with a molecularly confirmed diagnosis of pEDS will be important to further define the clinical features. [from GeneReviews]
Authors:
Ines Kapferer-Seebacher  |  Fleur S van Dijk  |  Johannes Zschocke   view full author information

Additional descriptions

From OMIM
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 (Kapferer-Seebacher et al., 2016). For a general phenotypic description and discussion of genetic heterogeneity of EDSPD, see EDSPD1 (130080).  http://www.omim.org/entry/617174
From MedlinePlus Genetics
Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.

Other types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.

Many people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.

An unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.

The various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.  https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Nephroblastoma
MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Colon cancer
MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Gingival bleeding
MedGen UID:
42218
Concept ID:
C0017565
Pathologic Function
Hemorrhage affecting the gingiva.
Joint dislocation
MedGen UID:
41614
Concept ID:
C0012691
Injury or Poisoning
Displacement or malalignment of joints.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Atypical scarring of skin
MedGen UID:
867415
Concept ID:
C4021786
Pathologic Function
Atypically scarred skin .
Periodontitis
MedGen UID:
45815
Concept ID:
C0031099
Disease or Syndrome
Inflammation of the periodontium.
Gingival recession
MedGen UID:
6607
Concept ID:
C0017572
Finding
The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.
Gingival fragility
MedGen UID:
939933
Concept ID:
C4315966
Finding
Gums that are easily damaged.
Hyperextensible skin
MedGen UID:
66023
Concept ID:
C0241074
Finding
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Fragile skin
MedGen UID:
66826
Concept ID:
C0241181
Finding
Skin that splits easily with minimal injury.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Prominent superficial veins
MedGen UID:
324870
Concept ID:
C1837785
Finding
A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal.
Pretibial hyperpigmentation
MedGen UID:
939948
Concept ID:
C4315981
Finding
Darkening of the area of skin that overlies the shin.

Recent clinical studies

Etiology

Mantle D, Wilkins RM, Preedy V
Med Hypotheses 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. PMID: 15607555
Khocht A, Calem B, Deasy M
J Periodontol 2004 Nov;75(11):1547-52. doi: 10.1902/jop.2004.75.11.1547. PMID: 15633333

Diagnosis

El Chehadeh S, Legrand A, Stoetzel C, Geoffroy V, Billon C, Adham S, Jeunemaître X, Jaussaud R, Muller J, Schaefer E, Benistan K, Gaertner S, Bloch-Zupan A, Courval A, Manière MC, Petit C, Bursztejn AC, Bal L, Reyre A, Chammas A, Busa T, Dollfus H, Lipsker D
Clin Genet 2021 Aug;100(2):206-212. Epub 2021 Apr 29 doi: 10.1111/cge.13972. PMID: 33890303
Stock F, Hanisch M, Lechner S, Biskup S, Bohring A, Zschocke J, Kapferer-Seebacher I
Biomolecules 2021 Jan 24;11(2) doi: 10.3390/biom11020149. PMID: 33498938Free PMC Article
Reinstein E, DeLozier CD, Simon Z, Bannykh S, Rimoin DL, Curry CJ
Eur J Hum Genet 2013 Feb;21(2):233-6. Epub 2012 Jun 27 doi: 10.1038/ejhg.2012.132. PMID: 22739343Free PMC Article
Karrer S, Landthaler M, Schmalz G
Clin Oral Investig 2000 Jun;4(2):66-9. doi: 10.1007/s007840050117. PMID: 11218502
Cunniff C, Williamson-Kruse L
Clin Dysmorphol 1995 Apr;4(2):145-9. PMID: 7606321

Therapy

Mantle D, Wilkins RM, Preedy V
Med Hypotheses 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. PMID: 15607555
Khocht A, Calem B, Deasy M
J Periodontol 2004 Nov;75(11):1547-52. doi: 10.1902/jop.2004.75.11.1547. PMID: 15633333
Karrer S, Landthaler M, Schmalz G
Clin Oral Investig 2000 Jun;4(2):66-9. doi: 10.1007/s007840050117. PMID: 11218502
Cunniff C, Williamson-Kruse L
Clin Dysmorphol 1995 Apr;4(2):145-9. PMID: 7606321

Prognosis

Khocht A, Calem B, Deasy M
J Periodontol 2004 Nov;75(11):1547-52. doi: 10.1902/jop.2004.75.11.1547. PMID: 15633333
Karrer S, Landthaler M, Schmalz G
Clin Oral Investig 2000 Jun;4(2):66-9. doi: 10.1007/s007840050117. PMID: 11218502

Clinical prediction guides

El Chehadeh S, Legrand A, Stoetzel C, Geoffroy V, Billon C, Adham S, Jeunemaître X, Jaussaud R, Muller J, Schaefer E, Benistan K, Gaertner S, Bloch-Zupan A, Courval A, Manière MC, Petit C, Bursztejn AC, Bal L, Reyre A, Chammas A, Busa T, Dollfus H, Lipsker D
Clin Genet 2021 Aug;100(2):206-212. Epub 2021 Apr 29 doi: 10.1111/cge.13972. PMID: 33890303
Reinstein E, DeLozier CD, Simon Z, Bannykh S, Rimoin DL, Curry CJ
Eur J Hum Genet 2013 Feb;21(2):233-6. Epub 2012 Jun 27 doi: 10.1038/ejhg.2012.132. PMID: 22739343Free PMC Article
Karrer S, Landthaler M, Schmalz G
Clin Oral Investig 2000 Jun;4(2):66-9. doi: 10.1007/s007840050117. PMID: 11218502

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