just to clarify, this is what I have. PROGRESSIVE HEMIFACIAL ATROPHY
A. D. HOLMES and A. R. KOLKER
|Progressive hemifacial atrophy often referred to as Romberg’s disease (or Parry Romberg Syndrome), is a pathological process involving progressive wasting of the skin, subcutaneous fat, muscle and occasionally, bones of the face. It was first described by Parry in 1825 and by Romberg in 1846. Eulenburg described the entity as “progressive facial hemi atrophy” in 1871. |
Incidence of progressive hemifacial atrophy is unknown but is relatively rare. Most plastic surgeons see less than a dozen cases in their working lifetime. It is unilateral in 95% of cases and is seen more commonly in females than males with a ratio of 1.5:1.
The onset is slow and progressive and begins usually during the first two decades of life, more often between the ages of 5 and 15. The progression of the atrophy usually lasts from 2 to 10 years, following which the process seems to enter a stable or “burn out” phrase. Clinically, subcutaneous tissue and skin are initially affected. The earliest signs include subcutaneous wasting in the malar or lateral mental regions, but may begin in the brow and paramedian forehead (coup de sabre). Pigmented, atrophic skin is another sign of the disease in its early stages. Later, as the disease progresses, facial musculature may atrophy and bone hypopasia may ensue. The facial skeleton is more likely to be affected when the disease onset is in the first decade of life. When the disease is peri-orbital, it can be associated with ophthalmic manifestations, which can include papillary disturbances, exudative neuroretinopathy and optic nerve dysfunction. There can be underlying spasm of involved muscles (esp. the masseter) and there can also be CNS manifestations including learning difficulties, multiple migraine headaches and even epilepsy.
Linear scleroderma “en coup de sabre” (or localized linear scleroderma) is a well recognized entity by dermatologists and rheumatologists. These specialists are less likely to see Romberg’s disease which tend to present to plastic or caniofacial specialists. There has been a debate (especially in the early German literature) about the connection of hemiatrophy and scleroderma for many years. This is important because most physicians believe that the course of scleroderma can be affected by systematic treatment. It is the authors’ belief that the 2 conditions are separate. Clinically, linear scleroderma may present in childhood and it involves intense loss of subcutaneous fat with ensuing thinning and pigmentation of the skin. It is commonly seen in the paramedian forehead region, hence “en coup de sabre”. If it overlies skull suture lines, these may be slow to close (or remain unclosed). However, one does not usually see underlying muscle or bone atrophy. The disease is more likely to start later in life and be progressive after the second decade. Patches of peripheral scleroderma occurring elsewhere on the body (usually the trunk) will clinch the diagnosis. Ocular manifestations are usually limited to atrophy of fat leading to enophthalmos but not neuro-ophthalmological problems. Underlying CNS manifestations are rare.
Historically, chronically inflammation and scarring can be seen in skin specimens in both Rombergs and scleroderma. However, the dermal sclerosis is said to be more intense with scleroderma and in Rombergs disease the elastin fibres are said to be preserved. In addition, there is apparently prolonged nerve conduction in areas affected by scleroderma which do not exist in Rombergs. Anti-nuclear anti-body titres are often raised with active linear scleroderma, but rarely so with Romberg’s disease.