Table 1 Clinical phenotypes of study participants of family 1 and 2
From: Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families
Family 1 | Family 2 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Individuals | IV:7 | IV:8 | IV:12 | V:2 | V:4 | V:8 | V:9 | III:2 | III:5 | III:6 | IV:1 | IV:2 |
Age | 27 years | 22 years | 45 Years | 16 years | 11 years | 15 years | 13 years | 28 years | 36 years | 40 years | 12 years | 8 years |
Sex | F | F | F | M | M | F | F | M | F | F | F | F |
Disease onset | 1 year | 1 year | 6 months | 6 months | 1 year | 3 months | 6 months | By birth | By birth | By birth | By birth | By birth |
Inheritance | Autosomal Recessive | Autosomal Dominant | ||||||||||
Diffuse PPK | + | + | + | + | + | + | + | + | + | + | + | + |
Scale colour | Yellowish | Yellowish | Yellowish | Yellowish | Yellowish | Yellowish | Yellowish | – | – | – | – | – |
Cuff like margins | ++ | ++ | ++ | ++ | ++ | ++ | ++ | – | – | – | – | – |
Pseudoainhum | – | – | – | – | – | – | – | – | – | – | – | – |
Cracked Hypekeratosis | – | – | – | – | – | – | – | ++ | +++ | + | + | + |
Deafness | – | – | – | – | – | – | – | Mild | Complete | Mild | Mild | Mild |
Speech abnormality | – | – | – | – | – | – | – | Mild | Complete | – | – | – |
Diffuse hyperkeratosis | – | – | – | – | – | – | – | Severe | Severe | Mild | Mild | Mild |
Teeth, hairs and nails | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal |
Finger deformity | – | ++ | ++ | + | – | – | – | – | + | + | – | – |
Hyperhidrosis | + | + | + | + | + | + | + | – | – | – | – | – |
Cardiomyopathy | – | – | – | – | – | – | – | – | – | – | – | – |