• Classical Type EDS Description

• Classical Type EDS Links

• Medical Journal Abstracts on Classical Type EDS

Classical Type EDS Description

Marked skin hyperextensibility with widened atrophic scars and joint hypermobility are found. The skin manifestations range in severity from mild to severe expression. The skin is smooth and velvety with evidence of tissue fragility including hiatal hernia, anal prolapse in childhood, and cervical insufficiency. Hernias may be a post-operative complication. Also evident are molluscoid pseudotumors frequently found over pressure points and subcutaneous spheroids which are mobile and palpable on the forearms and shins.

Complications of joint hypermobility include sprains, dislocations/subluxations and pes planus. Recurrent subluxations are common in the shoulder, patella and temporomandibular joints. Muscle hypotonia and/or delayed gross motor development may be evident.

Abnormal electrophoretic mobility of the proa 1(V) or proa 2(V) chains of collagen type V has been detected. Inheritance: Autosomal dominant.

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Classical Type EDS Links

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Medical Journal Abstracts on Classical Type EDS

• Factor XIIIa-positive dendrocyte rarefaction in Ehlers-Danlos syndrome, classic type.

• Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha 2beta 1 integrin and recruit alpha vbeta 3 instead of alpha 5beta 1 integrin.

• Ehlers-Danlos Syndrome, classical type: case management.

• Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: a prospective study.

• Dermatological diseases influenced by pregnancy.

• Safe ECT in a patient with the Ehlers-Danlos syndrome.

• Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

• Molecular basis of the classical type of Ehlers-Danlos syndrome.

• Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.

• Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.

• Factor XIIIa-positive dendrocyte rarefaction in Ehlers-Danlos syndrome, classic type.

• Ehlers-Danlos syndrome type I in pregnancy: a case report.

• Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression.

• COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.

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