The Ehlers-Danlos syndrome: recognition, characterization, and importance of a milder variant of the classic form. A preliminary study.
The diagnosis of Ehlers-Danlos syndrome is based on the clinical criteria of joint hypermobility, increased skin extensibility, abnormal scarring, and easy bruisibility. The literature reports this syndrome as rare, yet our experience dictated to the contrary. The present study of the prevalence of Ehlers-Danlos syndrome in a general dermatology population revealed (1) a milder variant of the classic mitis form of Ehlers-Danlos syndrome was common and present in 9% of the population studied, (2) these patients could be easily identified by the use of a defined clinical scoring system, and (3) a statistically significant association existed between clinical findings in Ehlers-Danlos syndrome and electron microscopic collagen abnormalities. The identification of this syndrome may be important prognostically in patients with diseases or conditions in which collagen plays a major role, such as joint disease (dislocations), bruising disease (pigmented purpura), and potentially scarring diseases (acne, patients undergoing cutaneous surgery).
Holzberg
M
M
Department of Dermatology, Emory University School of Medicine, Atlanta, GA.
Hewan-Lowe
K O
KO
Olansky
A J
AJ
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002921:Cicatrix / Q000175:diagnosis; D003094:Collagen; D003288:Contusions / Q000175:diagnosis; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D007593:Joint Instability / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D012867:Skin / Q000473:pathology
D003094:Collagen