Parry–Romberg syndrome
| Parry–Romberg syndrome | |
|---|---|
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| a 17-year-old girl with Parry–Romberg syndrome. The subcutaneous tissue and underlying facial muscles on the right side of the face are severely atrophic, while the left side is unaffected. | |
| Classification and external resources | |
| Specialty | Neurology |
| ICD-10 | G51.8 |
| ICD-9-CM | 349.89, 351.8 |
| OMIM | 141300 |
| DiseasesDB | 30151 |
| MeSH | D005150 |
| Orphanet | 1214 |
Parry–Romberg syndrome (also known as progressive hemifacial atrophy) is a rare disease characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body. An autoimmune mechanism is suspected, and the syndrome may be a variant of localized scleroderma, but the precise cause and pathogenesis of this acquired disorder remains unknown. It has been reported in the literature as a possible consequence of sympathectomy. The syndrome has a higher prevalence in females and typically appears between 5 – 15 years of age.
In addition to the connective tissue disease, the condition is sometimes accompanied by neurological, ocular and oral symptoms. The range and severity of associated symptoms and findings are highly variable.
Initial facial changes usually involve the area of the face covered by the temporal or buccinator muscles. The disease progressively spreads from the initial location, resulting in atrophy of the skin and its adnexa, as well as underlying subcutaneous structures such as connective tissue, (fat, fascia, cartilage, bones) and/or muscles of one side of the face. The mouth and nose are typically deviated towards the affected side of the face.
The process may eventually extend to involve tissues between the nose and the upper corner of the lip, the upper jaw, the angle of the mouth, the area around the eye and brow, the ear, and/or the neck. The syndrome often begins with a circumscribed patch of scleroderma in the frontal region of the scalp which is associated with a loss of hair and the appearance of a depressed linear scar extending down through the midface on the affected side. This scar is referred to as a "coup de sabre" lesion because it resembles the scar of a wound made by a sabre, and is indistinguishable from the scar observed in frontal linear scleroderma.
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