[EDS] Tongue defect may predict connective tissue disorder ->Ehlers-Danlos Syndrome [EDS]

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Tongue defect may predict connective tissue disorder

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Researchers have identified a physical characteristic that could help identify

newborns with an inherited connective tissue disease called Ehlers-Danlos

syndrome (EDS), which until now has been identifiable only later in life.

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Tongue defect may predict connective tissue disorder

May 15, 2001

ATLANTA (Reuters Health) - Researchers have identified a physical

characteristic that could help identify newborns with an inherited

connective tissue disease called Ehlers-Danlos Syndrome [EDS], which until

now has been identifiable only later in life.

Ehlers-Danlos Syndrome [EDS] refers to a group of connective tissue

disorders marked by fragile, highly stretchable skin and " hyper-mobile "

joints that stretch past normal range. Ehlers-Danlos Syndrome [EDS] affects

about 1 in 5000 people.

Until now, diagnosis at birth has not been possible because the main

characteristics of Ehlers-Danlos Syndrome [EDS] do not show up until later

in life. Dr. Claudio De Felice and colleagues of the Universita di Siena in

Italy hypothesized that because Ehlers-Danlos Syndrome [EDS] affects

connective tissue, patients with the disorder might have defects in two

tongue structures made of connective tissue.

The two structures are called the inferior labial frenulum and the lingual

frenulum.

The inferior labial frenulum is the tiny cord between the center of the

inside lip and the center of the gum.

The lingual frenulum is a similar cord between the base of the tongue and

the floor of the

mouth.

Looking at 12 adults and teenagers with Ehlers-Danlos Syndrome [EDS], De

Felice's team found that all were missing their inferior labial frenulum

and nine were missing their lingual frenulum.

" To date, no congenital physical markers exist for identifying patients

with Ehlers-Danlos Syndrome [EDS], " the researchers write in the May 12th

issue of The Lancet.

These tongue defects, De Felice said in a statement, may be useful in

spotting newborns with Ehlers-Danlos Syndrome [EDS] before the hallmark

signs appear.

The researchers note that the absence of the inferior labial frenulum has

been seen in about one third of patients with another birth defect called

infantile hypertrophic pyloric stenosis -=- a blocking of the opening

between the stomach and intestines.

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The Facts About Ehlers-Danlos Syndrome

Ehlers-Danlos National Foundation

<http://www.ednf.org/articles/facts.htm>

6399 Wilshire Blvd., Suite 203

Los Angeles, CA 90048

The Facts About Ehlers-Danlos Syndrome

Compiled By Darlene A. e, R.N., M.S.N., Skrocki Czerpak, R.N. &

Neumann-Potash, R.N., M.N.

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable

connective tissue disorders, characterized by articular (joint)

hyper-mobility, skin extensibility and tissue fragility.

There are six major types of EDS. The different types of EDS are classified

according to their manifestations of signs and symptoms. Each type of EDS

is a distinct disorder that " runs true " in a family.

This means that an individual with Vascular Type EDS will not have a child

with Classical Type EDS. Individuals with EDS have a defect in their

connective tissue, the tissue which provides support to many body parts

such as the skin, muscles and ligaments.

The fragile skin and unstable joints found in EDS are the result of faulty

collagen. Collagen is a protein which acts as a " glue " in the body, adding

strength and elasticity to connective tissue.

Symptoms

Clinical manifestations of EDS are most often skin and joint related and

may include:

Skin: soft velvet-like skin; variable skin hyper-extensibility; fragile

skin that tears or bruises easily (bruising may be severe);

severe scarring; slow and poor wound healing;

development of molluscoid pseudo-tumors (fleshy lesions associated with

scars over pressure areas).

Joints: joint hyper-mobility; loose/unstable joints which are prone to

frequent dislocations and/or subluxations;

joint pain; hyper-extensible joints (they move beyond the joint's normal

range);

early onset of osteoarthritis.

Miscellaneous/Less Common: chronic, early onset, debilitating

musculoskeletal pain (usually associated with the Hyper-mobility Type);

arterial/intestinal/uterine fragility or rupture (usually associated with

the Vascular Type);

Scoliosis at birth and scleral fragility (associated with the

Kyphoscoliosis Type);

poor muscle tone (associated with the Arthrochalasia Type);

mitral valve prolapse; and

gum disease.

Prevalence

At this time, research statistics of EDS show the prevalence as 1 in 5,000

to 1 in 10,000. It is known to affect both males and females of all racial

and ethnic backgrounds.

Hereditary Patterns

The two known inheritance patterns for EDS include autosomal dominant and

autosomal recessive.

Specifics regarding genetic inheritance may be found in another EDNF

informational brochure. Regardless of the inheritance pattern, we have no

choice in which genes we pass on to our children.

How is EDS Diagnosed

Diagnosis of EDS is based upon clinical findings and upon the family history.

Since many patients do not fit neatly into one of the specific types of

EDS, a diagnosis is often delayed or overlooked. Specific diagnostic tests

are available for some types of EDS in which there is a known biochemical

defect.

Sometimes, a physician may perform a skin biopsy to study the chemical

makeup of the connective tissue. The biopsy involves removing a small piece

of skin, under local anesthesia. Physicians who are able to diagnose EDS

may include medical geneticists, pediatricians, rheumatologists and

dermatologists.

Treatment/Management of EDS

The gaping skin wounds, which are common in several types of EDS, should be

approached with care. Proper repair of these wounds is necessary to prevent

cosmetic disfigurement.

Surgical procedures can be risky, as fragile tissues can unexpectedly tear.

Suturing may present problems for the same reason. Excessive sun exposure

should be avoided by the daily use of sunscreen. One should avoid

activities that cause the joint to lock or overextend.

A physician may prescribe bracing to stabilize joints. Surgical repair of

joints may be necessary at some time.

Physicians may also consult a physical and/or occupational therapist to

help strengthen muscles and to teach people how to properly use and

preserve their joints.

To decrease bruising and improve wound healing, some patients have

responded to ascorbic acid (vitamin C) by taking 1 to 4 grams daily. Prior

to starting a regimen such as this, it is imperative to consult with your

physician for specific recommendations.

In general, medical intervention is limited to symptomatic therapy.

Prior to pregnancy, patients with EDS should have genetic counseling.

Children with EDS should be provided with information about the disorder,

so they can understand why contact sports and other physically stressful

activities should be avoided.

Children should be taught early on that demonstrating the unusual positions

they can maintain due to loose joints should not be done as this may cause

early degeneration of the joints. Family members, teachers and friends

should be provided with information about EDS so they can accept and assist

the child as necessary.

Prognosis

The prognosis of EDS depends on the specific type. Life expectancy can be

shortened with the Vascular Type of EDS due to the possibility of organ and

vessel rupture. Life expectancy in all other types is normal.

Reference:

Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P., & Wenstrup, R.

(in press). Ehlers-Danlos Syndrome:

Revised Nosology, Villefranche, 1997. American Journal of Medical Genetics.

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