"Ehlers-Danlos syndrome is a group of disorders that affect connective
tissues, which are tissues that support the skin, bones, blood vessels,
and other organs. Defects in connective tissues cause the signs and
symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints
to life-threatening complications." [1] Also called "Fragile Tissue Disease", where as the connective tissue is malformed, is highly stretchy, and tears easily. "EDS-HT is ... defined by the
association of generalized JHM [joint
hypermobility], joint instability complications,
widespread musculoskeletal pain, and (minor) skin features ... EDS-HT shows a significant phenotypic overlap with the joint
hypermobility syndrome (JHS), a rheumatologic disorder with a high
disability potential and strong familial aggregation. Whether such similarities reflect etiological identity remains to be established."[2]
"Ehlers-Danlos syndrome (EDS) was first recognized in the first decade of the twentieth century as a hereditary disorder with typical skin manifestations. Over the decades, EDS emerged as a clinically and genetically heterogeneous group of disorders, including an increasing number of variants which share the variable combination of dermal fragility, internal organ and vessel ruptures, and joint hypermobility (JHM). After many years of nosologic confusion, a group of experts, who met in Villefranche in 1997, identified six major EDS subtypes, namely, classic, hypermobility (i.e., Ehlers-Danlos syndrome, hypermobility type—EDS-HT), vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis, recognized by specific diagnostic criteria. Among them, EDS-HT is the most difficult to recognize due to the lack of clinical diagnostic handles and confirmatory laboratory/molecular tests. Nevertheless, EDS-HT is now considered the commonest EDS variant with an unexpectedly high disability potential. While EDS-HT is characterized by the “absence” of the typical cutaneous manifestations observed in many other EDS subtypes, skin and mucosae represent common sites of disease manifestation with a plethora of minor anomalies, whose detection still has an invaluable role in suspecting such a creeping condition. Moreover, given the protean constellation of additional features of EDS-HT, mastering the broad spectrum of subtle findings detectable at inspection is crucial for early diagnosis and management of potentially disabling complications"[2]
"Ehlers-Danlos syndrome (EDS) was first recognized in the first decade of the twentieth century as a hereditary disorder with typical skin manifestations. Over the decades, EDS emerged as a clinically and genetically heterogeneous group of disorders, including an increasing number of variants which share the variable combination of dermal fragility, internal organ and vessel ruptures, and joint hypermobility (JHM). After many years of nosologic confusion, a group of experts, who met in Villefranche in 1997, identified six major EDS subtypes, namely, classic, hypermobility (i.e., Ehlers-Danlos syndrome, hypermobility type—EDS-HT), vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis, recognized by specific diagnostic criteria. Among them, EDS-HT is the most difficult to recognize due to the lack of clinical diagnostic handles and confirmatory laboratory/molecular tests. Nevertheless, EDS-HT is now considered the commonest EDS variant with an unexpectedly high disability potential. While EDS-HT is characterized by the “absence” of the typical cutaneous manifestations observed in many other EDS subtypes, skin and mucosae represent common sites of disease manifestation with a plethora of minor anomalies, whose detection still has an invaluable role in suspecting such a creeping condition. Moreover, given the protean constellation of additional features of EDS-HT, mastering the broad spectrum of subtle findings detectable at inspection is crucial for early diagnosis and management of potentially disabling complications"[2]
[1] http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome - Genetics Home Referrence: Ehlers-Danlos Syndrome
[2] http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512326/ -Other good references:
Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations
1)https://rarediseases.info.nih.gov/diseases/2081/ehlers-danlos-syndrome-hypermobility-type -
NIH - Genetic and Rare Diseases Information Center (GARD: Ehlers-Danlos Syndrome, Hypermobility Type
No comments:
Post a Comment