Table 1.
Dermatological manifestations and major cardiac features of the nine patients with DSP c.2493delA p.(Glu831Aspfs*33) mutation
| Patient | Index IV:12 | III:7 | IV:10 | IV:11 | III:5 | III:6 | IV:8 | III:1 | IV:5 |
|---|---|---|---|---|---|---|---|---|---|
| Gender | F | F | F | M | F | F | F | F | M |
| Age at dermatologic evaluation (y) | 24 | 66 | 38 | 32 | 54 | 50 | 23 | 62 | 31 |
| PPK type | Focal | Diffuse | Focal | Focal | Focal | Focal | − | Focal | Focal |
| PPK onset | 1 y | 27 y | Infancy | Puberty | 30 y | Puberty | − | Infancy | Infancy |
| Transgrediens | − | − | + | − | − | − | − | − | − |
| Progrediens | − | + | − | − | − | − | − | − | − |
| Aquagenic whitening | + | − | − | + | + | + | − | + | − |
| Hyperhidrosis | + face, armpits | + feet, hands | NA | − | − | + armpits | + feet, hands, armpits | − | − |
| Curly hair | + | + until early adulthood | +/− wavy and thin | + since prepuberty | + | + | + | + since 30 y | + |
| Hair microscopy | Normal | Normal | Normal | Normal | Normal | Trichodystrophy | Normal | NA | NA |
| Other dermatologic | Atopic eczema | − | Atopic eczema | Atopic eczema | − | − | Atopic eczema | − | − |
| Arrhythmias | + | + | + | + | − | − | − | − | NA |
| DCM | − | + | + | + | − | − | − | − | NA |
| Other cardiac abnormalities | Trabeculation in CMR | Trabeculation in CMR | Trabeculation in CMR | − | − | CMR slightly abnormal | Heart failure | NA |
Transgrediens, PPK contiguously extending on the dorsal surfaces of the feet, hands, Achilles tendons and wrists; progrediens, worsening of PPK with age. Patients III:I and IV:3 were evaluated by telephone interview, photographs and patient records only. Arrhythmias means ventricular extrasystoles, VES, >100/24 h, SVES, supraventricular extrasystoles >100/24 h or NSVT, non‐sustained ventricular tachycardia.
Abbreviations: F, female; M, male, y, years; PPK, palmoplantar keratoderma; NA, not available; DCM, dilated cardiomyopathy; CMR, cardiac magnetic resonanceimaging.