| Ehlers-Danlos syndrome
Marked
skin hyperextensibility (stretchy) with widened atrophic scars and joint hypermobility are
found in the Classical Type of EDS. The skin manifestations range in severity from mild to
severe expression. The skin is smooth and velvety with the evidence of tissue fragility
and easy bruisability. Examples of tissue extensibility and fragility include hiatal
hernia, anal prolapse in childhood and cervical insufficiency. Hernias may be a
post-operative complication. Scars are found mostly over pressure points such as the
knees, elbows, forehead and chin. Molluscoid pseudo tumors(calcified hematomas) associated
with scars are frequently found over pressure points such as the elbows, and spheroids
(fat containing cysts) are usually found the on the forearms and shins.
Complications of
joint hypermobility include sprains, dislocations/subluxations and pes planus (flat foot)
to name a few. Recurrent joint subluxations are common in the shoulder, patella and
temporomandibular joints.Muscle hypotonia and delayed gross motor development may also be
evident.
Clinical Testing
- Abnormal electrophoretic mobility of the proa1(V) or proa2(V) chains of collagen type V
has been detected in several but not all families with the Classical Type. The Classical
Type of EDS is inherited in an autosomal dominant manner. |
