The clinical picture is highly variable and
depends on the type of EDS. The skin is generally hyperelastic and
hyperextensible (difficult to assess in neonates and infants) but most often
is thin and highly vulnerable with a tendency to hematomas associated with
already minor trauma. Patients often have impaired wound healing with
inappropriate (either hypertrophic or atrophic) scarring, particularly
affecting the most exposed body areas (knee, shin bone). The occurrence of
knuckle pads on hands and feet, molluscoid pseudotumors from scars on elbows
and knees, subcutaneous calcifications, spheroids (small, mobile, hard
nodules on forearms and lower legs), and acrogeria are common findings. Easy
bruising is noticed in infancy, commonly occurring in exposed body areas and
often presenting as spontaneous ecchymoses that later change into areas of
brownish discoloration. This is explained by increased tissue fragility. The
laxity of the ligaments not only leads to hyperextensibility of the joints,
which is most pronounced in (but not limited to) shoulder, elbow, ankle, and
temporomandibular joint and may result in recurrent (sub)luxations, but also
to skeletal anomalies (e.g., kyphoscoliosis, clubfoot). The Beighton Score
is used to assess the degree of joint hyperextensibility and the criteria
include (1) passive dorsiflexion of the little fingers beyond 90 degrees,
(2) passive apposition of the thumb to flexor aspect of the forearm, (3)
hyperextension of the elbow beyond 10 degrees, (4) hyperextension of the
knees beyond 10 degrees (genua recurvatum), and (5) forward flexion of the
trunk with the knees fully extended so that the palms of the hand rest flat
on the floor. Chronic joint and musculoskeletal pain is a common problem in
EDS patients. Cardiovascular anomalies include multiple aneurysms (rarely of
the aorta) and rupture and dissection of arteries, varicosis, mitral valve
prolapse (common), orthostatic hypotension, and acrocyanosis. Although
dilatation of the aortic root is rare, it should be kept in mind and checked
on a regular basis (echocardiography) because sudden cardiac death secondary
to aortic rupture has been described. Facial appearance is often (but not
always) typical in vascular type of EDS, presenting with a slender face,
sunken cheeks, thin or pinched nose, thin (upper) lips, prominent eyes with
periorbital pigmentation, and firm, lobeless ears. Vascular type of EDS is
the most severe form, with arterial rupture occurring in 25% of these
patients before age 20 years and in 80% before age 40 years. This
complication is the most common cause of death in these patients, whose
average life expectancy is 48 years. Arterial rupture may present with acute
abdominal or flank pain, which should prompt urgent investigations in these
patients. Because of the increased tissue fragility, which also involves the
arteries, the repair is often very difficult or even impossible.
Ophthalmologic features may include strabismus, ptosis, keratoconus, blue
sclerae, glaucoma, photophobia, (sub)luxation of the lens, rupture of the
globe, and blindness from recurrent retinal hemorrhages. Gastroesophageal,
inguinal, and umbilical hernias, anal prolapse, and spontaneous ruptures of
intestinal organs have been reported.