Progressive facial hemiatrophy (PFH) is characterized by a slowly progressive atrophy of soft tissues and in some cases bony structures. Coexisting features of localized scleroderma (LS) are commonly observed, indicating the close nature of both disorders.

We sought to investigate clinical, serological, and radiographic findings in PFH from 278 patients with LS and to discuss the relationship to linear scleroderma en coup de sabre (LSCS).

A total of 12 patients with PFH were retrospectively evaluated on the basis of clinical, serological, and radiographic findings.

Five patients (42%) presented with complete PFH, and 7 patients (58%) with partial PFH involving either cheek or forehead. Five of the patients (42%) had a coexisting LSCS lesion, and 3 of them (25%) had concomitant LS of the trunk. Intraoral involvement was present in 6 cases. Neurological involvement was common, in particular, epileptic seizures. Serologic investigations showed neither evidence for infection with Borrelia burgdorferi nor any other indication of underlying systemic immunological disorders.

There were a relatively small number of patients in a retrospective study.

The reported cases suggest a close relationship between PFH and LSCS. PFH might appear as two different subtypes, one involving cutaneous structures and presenting with clinical features similar to LSCS, one being strictly restricted to subcutaneous structures, primarily affecting the cheek area. The manifold clinical features of central nervous system involvement indicate the pathogenetic importance of neurological involvement in the development of PFH. Magnetic resonance imaging should be included in the tools of standard diagnostic procedures in patients with PFH. The etiologic relevance of autoimmunity as well as preceding trauma should be investigated in larger collective studies.