Tongue defect may predict connective tissue disorder

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Tongue defect may predict connective tissue disorder

ATLANTA, May 15 (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.

EDS refers to a group of connective tissue disorders marked by fragile,

highly stretchable skin and " hypermobile " joints that stretch past normal

range. EDS affects about 1 in 5000 people.

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

characteristics of 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 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 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

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 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.

SOURCE: The Lancet 2001;357:1500-1502.