Classical Type

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. The skin is smooth and velvety along with evidence of fragility and a tendency to bruise easily. 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, although recent work may have brought molecular diagnosis rate to over 90%. The Classical Type of EDS is inherited in an autosomal dominant manner.