Table 1.
Peripheral quantification and immunohistochemistry from RTT 3 mm epidermal punch biopsy for each RTT case and healthy control
| Case | Age | Site | ENFd | SP | CGRP | VIP | Mast cell granulation | Mast cell morphology |
|---|---|---|---|---|---|---|---|---|
| RTT1 | 12 | Calf | 39.3 | 5 | 20 | 0 | 0 | Ovoid |
| RTT2 | 13 | Calf | 12.2 | 7 | 19 | 0 | 0 | Elongated |
| RTT3 | 15 | Calf | 53.2 | 6 | 20 | 1 | 0 | Elongated |
| RTT4 | 19 | Calf | 60.3 | 3 | 12 | 0 | 1 | Elongated |
| HC | 14 | Calf | 40.4 | 4 | 10 | 0 | 0 | Ovoid |
| HC | 12 | Calf | 28.2 | 6 | 13 | 0 | 0 | Ovoid |
| HC | 13 | Calf | 32.6 | 7 | 14 | 0 | 0 | Ovoid |
| HC | 12 | Calf | 19.4 | 7 | 7 | 0 | 0 | Ovoid |
| HC | 11 | Calf | 15.3 | 1 | 12 | 0 | 0 | Elongated |
| HC | 13 | Calf | 30.1 | 6 | 11 | 0 | 0 | Ovoid |
| HC | 17 | Calf | 22.1 | 3 | 15 | 0 | 0 | Ovoid |
| HC | 15 | Calf | 29.6 | 2 | 10 | 0 | 0 | Ovoid |
Age: years; Calf: posteromedial; ENFd: epidermal nerve fibers/3 mm; HC: healthy control; SP: substance P positive fibers/3 mm; CGRP: calcitonin gene‐related peptide positive fibers/3 mm; VIP: vasoactive intestinal peptide positive fibers/3 mm; Mast cell granulation: 0: intact/no degranulation; 1: minimal degranulation; RTT: Rett syndrome.