Figure 1.

Pedigree and clinical manifestation. (A) Pedigree showing 2 affected individuals (no. 29 and no. 30). (B) Panoramic radiograph revealing aggressive periodontitis as clinical manifestation of congenital neutropenia in patient no. 30. Coronal carious decay is marked by asterisks; periradicular radiolucency around the apex of the second lower left premolar is indicated by small arrows. Bold arrows indicate generalized horizontal alveolar bone loss with vertical drop. Note the difference between expected alveolar bone level (continuous line) and actual alveolar bone margin (dotted line). (C) Transmission electron microscopy of the basal keratinocyte (K) and a melanocyte process (M) from a healthy individual (left) and from patient no. 30 (right). In a healthy individual, mature melanosomes (arrowheads) are translocated from melanocytes to keratinocytes. In AP-3 deficiency, keratinocytes contain large phagosomes of densely packed immature melanosomes (arrows).