Soft tissue cervicofacial emphysema after dental treatment: report of 2 cases with emphasis on the differential diagnosis of angioedema.

BACKGROUND: The development of soft tissue cervicofacial emphysema after dental treatment is a rare complication, with few descriptions in the dermatologic literature. It is usually restricted to only moderate local swelling. However, spread of larger amounts of air into deeper spaces may sometimes cause serious complications, including airway compromise due to accumulation of air in the retropharyngeal space, pneumomediastinum, and pneumopericardium. Fatal air embolism and soft tissue infections through dissemination of oral flora microorganisms along the emphysematous tracts have also been described. Therefore, early recognition is important, but the unfamiliarity of dermatologists with this condition often causes diagnostic problems. Important differential diagnoses include angioedema, soft tissue infections, and hematoma. OBSERVATIONS: We describe 2 patients with different severity of the emphysema and airway compromise, representing the wide spectrum of its clinical expression. Our first case was remarkable, because the emphysema was massive and extended far into deep spaces, including the orbita, mediastinum, and pleural cavity. The present case is only the third report of pneumothorax associated with dental treatment published to date. The patient's condition was initially misdiagnosed and treated as angioedema. CONCLUSIONS: Dermatologists should be aware that soft tissue emphysema can cause acute swelling of the cervicofacial region after dental procedures. Angioedema is an important differential diagnosis, because it may be caused by the use of nonsteroidal anti-inflammatory drugs or local anesthetics, which are often administered during dental treatments.

Late-onset Papillon-Lefèvre syndrome without alteration of the cathepsin C gene.

Mutations in the cathepsin C gene have recently been detected in Papillon-Lefèvre syndrome (PLS). Until now, 5 cases with the late-onset variation of this disease have been reported in the literature. The genetic background of this type of PLS is still unknown. We describe a 46-year-old woman with late-onset transgredient palmar hyperkeratosis and a 10-year history of severe periodontal disease. Histology of skin biopsy specimens revealed a psoriasiform pattern. Dental examination showed severe gingival inflammation with loss of alveolar bone. Dental plaque investigated by a polymerase chain reaction method revealed DNA signals of 5 different dental bacteria. DNA from EDTA blood was investigated for mutations in the cathepsin C gene by polymerase chain reaction analysis and direct sequencing. A silent variation in the codon for proline-459 was detected but interpreted as a polymorphism of this gene. All genetic linkage and mutation studies for PLS performed so far have shown that PLS is genetically homogeneous. Our patient with late-onset variation of PLS, however, did not show a mutation in the cathepsin C gene. Thus, we suspect that there is another genetic cause for the late-onset forms of PLS.