Table 1. Clinical manifestations of this pedigree with Basan syndrome.
Skin blistering | Congenital milia | Lack of fingerprints | Contractures of digits | Hypohidrosis | PPK | Nail dystrophy | Hyperpigmentation | Knuckle pads | |
---|---|---|---|---|---|---|---|---|---|
II:3 | + | + | + | Severe | + | Severe | + | + | Mild |
III:1 | + | + | + | Moderate | + | Moderate | − | + | Mild |
III:4 | + | + | + | Severe | + | − | − | + | Severe |
III:6 | + | + | + | Mild | + | − | − | − | − |
IV:1 | + | + | + | Mild | + | − | − | + | Severe |
IV:2 | + | + | + | Mild | + | − | − | + | Moderate |
IV:4 | + | + | + | Mild | + | − | − | − | Severe |
IV:5 | + | + | + | Mild | + | − | − | − | Severe |
Abbreviation: PPK, palmoplantar keratoderma.