By Amy s on Friday, September 06, 2002 - 01:01 pm:

I have been diagnosed with this and was wondering whether it was related to EDS/HMS?

By ... on Monday, September 09, 2002 - 03:53 am:

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By Az on Thursday, October 28, 2004 - 09:17 pm:

Yes it is related to HMS/EDS I will use the following as an example though the EDS are now reclassified and there is only EDS vascular and Hypermobility type EDS diagnosed now not all 6 EDS but that doesnt change the symptoms.

[quote]Ehlers-Danlos syndrome (EDS) is a connective tissue disorder affecting skin and joints. Based on clinical symptoms and inheritance patterns, the syndrome has been classified into nine types. However, half of the patients do not fit into one of these categories. In 1997, a reclassification of the syndromes based on the cause of each type was proposed.

In 1972, McKusick recognized a family with skin fragility, abnormal scarring, early tooth loss, and severe periodontitis. This cluster of findings is referred to as EDS type VIII. These patients have minimal to moderate joint hypermobility and a slight increased tendency for bruising with mild trauma, which result in the characteristic purplish discoloration of scars on the shins. Inheritance is autosomal dominant, but it appears that there is considerable interfamilial variability and phenotypic heterogeneity.

The diagnosis in our patient was based on the constellation of clinical findings such as inflamed gingiva, pretibial hyperpigmented scarring. The absence of similar findings in children and grandchildren suggests evidence of incomplete penetrance.

Unlike EDS types IV, VI, and VII, the defect causing EDS type VIII has not yet been elucidated. Dyne et al., found no abnormalities in collagen type I or II synthesis and secretion, or serum levels of type III collagen, and hypothesized that the defect could be a non-collagen component of connective tissue.

Unfortunately, the treatment for EDS type VIII is symptomatic. Although the dental abnormalities of apical root resorption may be detected at an early age, they are essentially irreversible.
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