Linear Scleroderma en Coup de Sabre and Parry Romberg Syndrome

Linear scleroderma en coup de sabre is a particular form of linear scleroderma that may not truly be related to the other forms. Children with linear sclero-derma en coup de sabre have an area of thickened abnormal skin involving one side of the forehead and extending along the scalp toward the back. They usually do not have significant underlying problems.

Parry-Romberg syndrome is a gradually progressive facial hemiatrophy. In a full-fledged case, there is significant deformity, with one entire side of the face smaller than the other. This is in sharp contrast to typical linear scleroderma en coup de sabre, where the abnormality is confined to the forehead. While the changes of linear scleroderma en coup de sabre are usually confined to the skin, in Parry-Romberg syndrome there is an increased frequency of underlying changes in the brain.

The difference between linear scleroderma en coup de sabre and Parry-Romberg syndrome is best exemplified by involvement of the tongue in Parry-Romberg syndrome. Not only is one side of the face smaller, but also one side of the tongue is smaller. Thus, Parry-Romberg syndrome is clearly not a condition of the skin alone. However, both conditions may begin the same way.

These illnesses typically begin in the first or second year of life. Most often the family will describe having noticed a pinkish lesion just to one side of the middle of the forehead. Over a few weeks the lesion does not go away as expected. Instead, the veins may become more noticeable in the pink area.

The lesion on the forehead is often present for months before the family begins to notice indentation of the bone under the pink skin. On careful examination, there may be a continuation of the abnormal skin underneath the hairline. In other children, over time the area of pink skin extends further down the face and along the side of the nose. Linear scleroderma en coup de sabre should not extend below the eyelid. True Parry-Romberg syndrome involves the entire side of the face. Some children fall in between.

Because there are children with varying degrees of involvement, there is no uniform agreement regarding where linear scleroderma en coup de sabre ends and Parry-Romberg syndrome begins. If there is involvement of the tongue, it is Parry-Romberg syndrome. I also believe all children with neurologic involvement have Parry-Romberg syndrome and not linear scleroderma en coup de sabre.

Laboratory abnormalities are minimal in children with both of these disorders. As with other forms of linear scleroderma, some children have positive tests for ANA, but tests for anti-dsDNA, RF, Scl-70, and anticentromere antibody should be negative, and routine blood tests including CBC and ESR should be normal. These children should not have abnormal muscle enzymes or muscle weakness.

Treatment and prognosis for this group of children remain uncertain. If the lesions are confined to the scalp and forehead, as in typical linear scleroderma en coup de sabre, they are responsive to methotrexate. The long-term outlook for children with linear scleroderma en coup de sabre is generally excellent. In most cases the cosmetic deformity is minimal and can be well concealed by the hair.

Unfortunately, children with Parry-Romberg syndrome are rarely recognized before the atrophy has become significant. In most cases, it does not appear appropriate to intervene medically at that point. However, in the hands of an experienced plastic surgeon, cosmetic surgery is practical. There are multiple special considerations involved in this surgery and it should be done only by a team experienced in dealing with such children.

A significant percentage of children with Parry-Romberg syndrome also have underlying central nervous system lesions. These may vary from benign nonspecific findings on MRI to vascular malformations or neurologic abnormalities. I evaluate all children who come to me with Parry-Romberg syndrome with an MRI in order to see whether such abnormalities are present. Some children with Parry-Romberg may have learning disabilities. Although some physicians dismiss this as a coincidence, the association is real.

Some children with Parry-Romberg syndrome have developed inflammation of the optic nerve (the nerve in the back of the eye that provides vision). This is rare but requires immediate treatment if it occurs. I have also cared for children with linear scleroderma en coup de sabre who developed uveitis (ocular inflammation). All children with either linear scleroderma en coup de sabre or Parry-Romberg syndrome should have periodic ophthalmologic evaluations.

The combination of cosmetic and neurologic abnormalities in children with Parry-Romberg syndrome makes the prognosis for these children more guarded. Most do well with corrective surgery. A sympathetic family and physician are important. Special efforts must be made to help these children deal with the social stresses that result from their often obviously abnormal appearance (see Chapter 24).

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