Progressive facial hemiatrophy: central nervous system involvement and relationship with scleroderma en coup de sabre

To investigate the relationship of progressive facial hemiatrophy (PFH) and scleroderma en coup de sabre by establishing the presence and type of central nervous system (CNS) involvement in both diseases and the possible coexistence of PFH with scleroderma in other body sites.

We divided 19 cases of PFH into 2 groups: group 1 in which atrophies were preceded by cutaneous indurations (n = 10) and group 2 with no precedent indurations (n = 9). The third group consisted of 7 cases of scleroderma en coup de sabre with no PFH features. Clinical and laboratory investigations included indirect immunofluorescence for antinuclear antibodies, and routine neurological examination involved electroencephalography, magnetic resonance imaging (MRI) before and after contrast application to evaluate the integrity of blood-brain barrier, angio-MRI to evaluate intracranial blood vessel anomalies, and 99mTc-HM-PAO-SPECT to evaluate regional cerebral blood flow (CBF).

We found similar anomalies in all 3 groups. MRI did not show abnormality in 2 out of 9 PFH cases preceded by indurations, in 5 out of 9 cases not preceded by indurations, and in all 7 cases of scleroderma en coup de sabre, including 5 patients, in whom the CBF was found to be diminished. In single cases of groups 1 and 2, SPECT was normal despite some MRI abnormalities. Angio-MRI was not contributory since the same abnormalities of Willis circle were found in normal controls. In single cases of both PFH groups, MRI with contrast disclosed some damage of the blood-brain barrier.

Our results suggest frequent CNS involvement in PFH cases, regardless of the time of presentation of cutaneous indurations, with or without coexistent plaques of localized scleroderma in other locations. This indicates a close relationship between PFH and scleroderma en coup de sabre. The detection of abnormal SPECT by normal MRI in some cases of PFH and scleroderma en coup de sabre is of practical importance. This indicates the usefulness of SPECT in studying both PFH and scleroderma en coup de sabre.