scholarly journals Multifocal periapical cement dysplasia in Ehlers-Danlos Typ VIII combined with leukoencephalopathy in de novo-mutation of c.890G>A, G297D [pEDS]

2021 ◽  
Author(s):  
Manfred Nilius ◽  
MInou Nilius ◽  
Charlotte Mueller ◽  
Guenter Lauer ◽  
Berit Koch ◽  
...  
Keyword(s):  
De Novo ◽  
De Novo Mutation ◽  
Joint Mobility ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Viii ◽  
Attached Gingiva ◽  
Skin Fragility ◽  
Danlos Syndrome

Periodontal Ehlers-Danlos syndrome type VIII (pEDS) is rare and caused by mutation in complement 1 subunit. Lack of attached gingiva, pretibial plaques, joint mobility, skin fragility, and easy bruising consolidate the diagnosis. We describe a case of de novo-mutation of pEDS with generalized periapical cemento dysplasia (PCD) and leukoencephalopathy.

Ehlers-Danlos syndrome type VIII

1981 ◽  
Vol 5 (3) ◽  
pp. 297-303 ◽  
Author(s):  
Douglas L. Nelson ◽  
Richard A. King
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Viii ◽  
Danlos Syndrome

scholarly journals Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Sophie Ronceray ◽  
Juliette Miquel ◽  
Antoine Lucas ◽  
Gérald E. Piérard ◽  
Trinh Hermanns-Lê ◽  
...  
Keyword(s):  
Young Patients ◽  
Leg Ulcer ◽  
Permanent Teeth ◽  
Syndrome Type ◽  
Leg Ulcers ◽  
Ehlers Danlos Syndrome ◽  
Type Viii ◽  
Thin Skin ◽  
Dominant Disease ◽  
Danlos Syndrome

Ehlers-Danlos syndrome type VIII (EDS-VIII) is a very rare autosomal dominant disease characterized by early-onset periodontitis associated with features of Ehlers-Danlos syndrome. We report a 32-year-old man whose chronic leg ulcer led to the diagnosis of EDS-VIII. He had severe periodontitis with complete loss of permanent teeth and skin fragility with thin skin, atrophic scars, and brownish atrophic pretibial plaques. Leg ulcer is not a prominent feature of EDS-VIII. We suggest adding EDS-VIII to the list of rare diseases accounting for chronic leg ulcers, if this case report prompts others to report leg ulcers associated with EDS-VIII.

Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness

2016 ◽  
Vol 41 (7) ◽  
pp. 771-774 ◽  
Author(s):  
S. M. C. George ◽  
A. Vandersteen ◽  
E. Nigar ◽  
D. J. P. Ferguson ◽  
E. J. Topham ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Viii ◽  
Danlos Syndrome

Ehlers-Danlos syndrome type VIII: Periodontitis, easy bruising, marfanoid habitus, and distinctive facies

2006 ◽  
Vol 55 (2) ◽  
pp. S41-S45 ◽  
Author(s):  
Megan M. Moore ◽  
Jennie M. Votava ◽  
Seth J. Orlow ◽  
Julie V. Schaffer
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Viii ◽  
Danlos Syndrome

scholarly journals Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII

1991 ◽  
Vol 41 (3) ◽  
pp. 284-288 ◽  
Author(s):  
L. G. Biesecker ◽  
R. P. Erickson ◽  
T. W. Glover ◽  
J. Bonadio
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Viii ◽  
Danlos Syndrome

Ehlers-Danlos syndrome type VIII and leukodystrophy

1996 ◽  
Vol 66 (2) ◽  
pp. 239-240 ◽  
Author(s):  
Stephanie Spranger ◽  
Matthias Spranger ◽  
Klaus Kirchhof ◽  
Beat Steinmann
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Viii ◽  
Danlos Syndrome
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