Skip to main content

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
  1. + = presence of feature, − -absence of feature, +++ = present in severe form